Hexa gene. Causes Variants in the HEXA gene cause Tay-Sachs disease.

• Hexa gene. The HEXA gene encodes the alpha subunit of beta-hexosaminidase A, an enzyme that breaks down GM2 ganglioside in the brain and spinal cord. There are three forms of TSD: infantile, juvenile, and late onset/adult form Jun 12, 2025 · The Tay-Sachs Disease page discusses the genetics and clinical features of this disease due to defects in the HEXA gene. Furthermore, this knowledge should enhance diagnosis and prognosis for Tay-Sachs disease, carrier identification, and fundamental studies in structure/function relationships between this gene and its enzymatic product. [8] Gene mutations in HEXB often result in Sandhoff disease; whereas, mutations in HEXA decrease the hydrolysis of G M2 gangliosides, which is HEXA gene The HEXA gene is located on chromosome 15q23 and encodes the alpha subunit of beta-hexosaminidase, which is responsible for the degradation of GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. Genetic Mutation: - Hex-A Gene Mutation: Tay-Sachs Disease is caused by mutations in the HEXA gene located on chromosome 15. UpToDate UpToDate Starting on April 2nd, existing users must re-register upon their first visit to continue using our web platform. Beta-hexosaminidase A includes one alpha subunit (produced from the HEXA gene) and one beta subunit. This enzyme is vital for the breakdown of specific lipids (gangliosides) within cells. Mutations in the alpha subunit of HEXA that encodes for the β-hexosaminidase-A lead to deficient enzyme activity and TSD phenotype. Base 16 to base 10. Study with Quizlet and memorize flashcards containing terms like The isoenzyme hexosaminidase A (HEXA) is composed of subunits α and β and breaks down molecules containing terminal N-acetyl hexosamines. Causes Variants in the HEXA gene cause Tay-Sachs disease. Abstract Tay-Sachs disease (TSD) is a catastrophic neurodegenerative disorder caused by mutations in the HEXA gene. Beta-hexosaminidase B is composed of two beta subunits. , 1996; Mahuran, 1999). Mutations in HEXA cause Tay-Sachs disease, Sandhoff disease, and GM2-gangliosidosis. Jul 17, 2025 · HEXA is a gene that encodes the alpha subunit of beta-hexosaminidase, an enzyme involved in lysosomal degradation of GM2 ganglioside. The Tay-Sachs Disease Carrier Status report* is included in the 23andMe Health + Ancestry Service. Every hex digit represents 4 binary digits, called nibbles, which makes representing large binary numbers simpler. The HEXB gene provides instructions for making a protein that is one part (the beta subunit) of two related enzymes, beta-hexosaminidase A and beta-hexosaminidase B. This screening typically involves a blood test for beta-hexosaminidase A enzyme activity or a DNA test for HEXA gene alterations. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. How to use hexa- in a sentence. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. uk if you encounter any issues. Oct 29, 2010 · As its name implies, the HEXA gene is essential to the production of the Hex-A enzyme, which is further comprised of alpha and beta subunits. ac. Use to confirm pathogenic and pseudodeficiency HEXA gene variants in individuals with abnormal levels of HEX A enzyme, a suspected diagnosis of HEXA deficiency, and/or suspected carrier status. It holds the instructions for creating an essential enzyme called hexosaminidase A (Hex-A), which is responsible for breaking down a fatty substance called GM2 ganglioside within our brain and nerve cells RefSeq Summary (NM_000520): This gene encodes a member of the glycosyl hydrolase 20 family of proteins. Hexosaminidase A is an important lysosomal enzyme; it is essential for breaking down certain fatty substances in the brain and nerve cells. Another fairly common mutation is a splice junction mutation found at intron twelve (Navon, 1989). Oct 4, 2024 · Introduction Tay-Sachs disease (TSD) is the most common genetic disorder among GM2 gangliosidoses (1). Mutations in HEXA cause Tay–Sachs disease, a fatal neurodegenerative disorder. Apr 21, 2025 · Tay-Sachs disease represents a particularly devastating example of conditions arising from the deficiency in hexosaminidase A, it is a rare genetic disorder. P06865 · HEXA_HUMAN Protein Beta-hexosaminidase subunit alpha Gene HEXA Status UniProtKB reviewed (Swiss-Prot) Oct 1, 2020 · Excerpt Clinical characteristics: HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. Lacking this key enzyme in GM2 ganglioside catabolism, individuals who are homozygous for HEXA mutations suffer from abnormal accumulation of GM2 ganglioside in brain and nerve cells The lifespan varies from shortened to unaffected. Purpose: To characterize novel mutations in the HEXA gene (α-subunit β-hexosaminidase A). Methods: Subjects included participants in the California Tay-Sachs disease prevention program. The encoded preproprotein is proteolytically processed to generate the The HEXA Gene: Unraveling Tay-Sachs Disease and its Link to Lipid Metabolism The HEXA gene is a crucial player in both our neurological health and the intricate world of lipid metabolism. Tay-Sachs disease is a progressive pediatric neurodegenerative disorder with symptoms ranging from classic TSD (acute infantile) to subacute juvenile and adult-onset forms that progress more slowly. The most common TSD allele worldwide contains a 4-bp insertion in exon 11 that produces a downstream premature termination codon. Here, we describe an adeno-associated virus (AAV) gene therapy expanded-access trial in two patients with infantile TSD (IND 18225) with Sep 20, 2024 · Abstract Tay-Sachs disease or GM2 gangliosidosis, is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. There are many mutations of the HEXA gene that result in Tay-Sachs and many that seem to have no File:HEXA location. Mutations in the HEXA gene are the primary cause of hexosaminidase A deficiency, and it leads to Mar 13, 2023 · Background Tay-Sachs disease (TSD), an autosomal recessively inherited neurodegenerative lysosomal storage disease, reported worldwide with a high incidence among population of Eastern European and Ashkenazi Jewish descent. An important paralog of this gene is HEXA. Jan 3, 2025 · Here, we assess the effect of recombinant HexA and HexD3, a newly engineered mimetic of HexA optimized for the treatment of Tay-Sachs disease and Sandhoff disease. Loss of function in either subunit of HexA or its adaptor protein can lead to GM2 gangliosidosis. Dec 20, 2023 · Hexa gene is a revolutionary technology that allows for the creation of complex biological circuits using a simplified six-letter genetic code. Read our rules for calculating the review status. Jul 27, 2025 · Identifying HEXA gene status and diagnosing Tay-Sachs disease involves several methods. Beta-hexosaminidase A is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Seventy-eight mutations in the Hex A gene have b … The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. Full gene sequencing of HEXA using a NGS platform has the ability to provide additional information regarding TSD carrier status when compared to traditional enzyme analysis and targeted genotyping approaches. Two patients received AAVrh8-HEXA and AAVrh8-HEXB gene therapy. Causes of Tay-Sachs Disease 1. The other three are decimal, or base-10; binary, or base-2; and octal, or base-8. Linkage analysis of polymorphic markers such as single nucleo… Sep 19, 2024 · HEXA hexosaminidase subunit alpha Gene ID: 3073, updated on 19-Sep-2024 Gene type: protein coding Also known as: TSD See all available tests in GTR for this gene Go to complete Gene record for HEXA Go to Variation Viewer for HEXA variants Summary This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The HEXA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, A. This test is crucial for identifying mutations in the hexosaminidase A gene, which can lead to severe neurological conditions. Tay Sachs disease (TSD) is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. Healthcare providers may refer to this condition as hexosaminidase A deficiency or hex A deficiency. CANCER BLOOD CELL LINE STRUCT & INT HEXA () protein expression summary. Mutations in HEXA cause Tay-Sachs disease and other GM2 gangliosidoses. Jul 17, 2025 · Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hydrolase activity, hydrolyzing O-glycosyl compounds. This condition is particularly prevalent among Ashkenazi Jews, but it can affect individuals from various backgrounds. HEXA encodes the alpha subunit of hexosaminidase A, a lysosomal enzyme involved in ganglioside degradation. Tay-Sachs disease happens when both parents have a mutated HEXA gene and pass it on to their children. The breakpoint of the deletion and deleted region in the HEXA gene. There are 16 hexadecimal digits. Aug 6, 2019 · Here, we have characterized 34 enzymatically confirmed TSD families to investigate the presence of novel as well as known variants in HEXA gene. Mutations in the HEXA gene cause Tay-Sachs disease, a rare and fatal neurological disorder that affects infants and children. This study is the first to highlight Feb 20, 2024 · Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. Functional Associations HEXA has 7,471 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 123 datasets. Mutations in Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. HEXA Gene: A Deeper Look Function: The HEXA gene encodes a protein that's a subunit of beta-hexosaminidase A, a lysosomal enzyme. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl HEXA Gene HEXA gene / cDNA is a protein-coding gene which located on 15q23. Blue-highlighted nucleotides show the sequence of Alu Detected mutations in the HEXA gene through gene sequencing and, by combining the HEXA enzyme assay and the HEXA gene sequencing assay, were able to clarify Tay Sachs carrier status. Each of these enzymes is made up of two subunits. Hex to decimal number converter and how to convert. TSD occurs in approximately 1 in 200,000 live births with a carrier frequency of 1 in 250 to 1 in 300 in the general population. HEXA codes for the alpha subunit of the enzyme β-hexosaminidase A. More than 130 mutations have been identified, including single gene deletions, substitution, insertion splicing alteration, duplication, and complex gene rearrangements. The α and β subunits are encoded by separate genes, HEXA and HEXB respectively. Molecular genetic testing for biallelic pathogenic variants in the HEXA gene is essential for confirming the diagnosis. Enzyme replacement therapy was administered by repeat intracerebroventricular injections in Sandhoff disease model mice with dosing beginning before and after signs of neurodegeneration. The disorder results from mutations in the gene encoding the alpha-subunit of beta-hexosaminidase A, a lysosomal enzyme composed of alpha and beta polypeptides. More than 80 different variants of the HEXA gene have been identified in individuals with Tay-Sachs disease. Nov 26, 2024 · The HEXA gene is located on chromosome 15. Choose "Hexadecimal" below and watch it count: Feb 7, 2024 · Thus, we can easily convert any hexadecimal number to any other number system by multiplying each digit based on its position in the number. HEXA gene: The most common mutation of the HEXA gene resulting in Tay-Sachs disease is a four base pair insertion found in exon eleven (OMIM,2001). These mutation cause low or absent activity of the enzyme beta-hexosaminidase A which leads to GM2 build up in brain and spinal cells causing muscle weakness, regression of milestones, and difficulty with mobility. 1. Hex uses 16 digits including 0-9, just as the decimal system does, but also uses the letters A, B, C, D, E, and F (equivalent to a, b, c, d, e, f) to represent the numbers 10-15. The following conversion table illustrates the decimal and hexadecimal systems for digits 0-15: Hexadecimal (also known as base-16 or simply hex) is a positional numeral system that represents numbers using a radix (base) of sixteen. Dec 1, 2020 · Tay-Sachs disease (TSD) is a neurodegenerative disease that is caused by mutations in the HEXA gene. The number of submissions which contribute to this review status is shown in parentheses. Without sufficient Hex-A activity, GM2 ganglioside accumulates to toxic levels, causing progressive damage to nerve cells. 3, 4 The HEXA gene has been isolated and characterized. Carrier screening is common for individuals or couples considering a family, especially in higher-risk populations. 202 organisms have orthologs with human gene HEXA. Located on the long arm of chromosome 15, the HEXA gene contains genetic information that encodes for a particular protein involved in the formation of the enzyme’s alpha subunit. Gene sequencing would be appropriate for individuals who have had a positive or equivocal Tay-Sachs enzyme carrier result and are negative for a panel of common pathogenic variants. About Tay-Sachs Disease What is Tay-Sachs Disease? Tay-Sachs disease (TSD) is a hereditary condition caused by mutations in the Hex-A gene, leading to a deficiency or absence of the Hex-A enzyme. Click the + buttons to view associations for HEXA Oct 6, 2024 · Tay-Sachs disease is an autosomal recessive disorder caused by a mutation in HEXA, which encodes the enzymes beta-hexosaminidase A. It is caused by pathogenic variants in the HEXA gene. Beta-hexosaminidase A The rapid identification of mutations causing Tay-Sachs disease requires the capacity to readily screen the regions of the HEXA gene most likely to be affected by mutation. Jul 23, 2025 · Hexadecimal is a number system with a base value of 16. Tay–Sachs disease (TSD) is clinically defined by mutations in the HEXA gene, Sandhoff disease by mutations in the HEXB gene, and AB variant gangliosidosis by inactivating mutations in GM2-Activator (Schepers et al. It does not discuss indications for testing and is not intended to replace clinical judgment in decisions to test or care of the tested individual. The carrier frequency for this disease in individuals of Ashkenazi Jewish ancestry is 1 in 31. Beta-hexosaminidase A plays a critical role in the brain and May 9, 2024 · This monograph discusses implications of genetic test results for the HEXA gene, which encodes the alpha subunit of beta-hexosaminidase A, the enzyme that is deficient in Tay-Sachs disease (TSD). Mar 15, 2018 · Our study showed that HEXA is an Alu-rich gene that predisposes individuals to disease-associated large deletions due to these elements. This deficiency causes fatty waste products to accumulate in cells, particularly nerve cells in the brain, causing cell swelling and death. We aimed to determine mutations leading to TSD in Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). [5][6][7] Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Tay–Sachs disease is inherited in an autosomal recessive pattern. Please contact us via cosmic@sanger. The mutations leading to Tay Sachs disease in India are yet unknown. Test Id : HEXAZ Order This Test Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Mar 17, 2025 · A 2022 study reported a gene therapy trial for infantile Tay-Sachs disease, focusing on safety as the primary endpoint. The enzyme is a dimer composed of one α- and one β-subunit. Inheriting two variant copies of the gene (homozygotes) causes a deficiency of the hexosaminidase A enzyme. Tay-Sachs disease is a rare but devastating genetic disorder that primarily affects the nervous system. thaliana, and rice. One alpha subunit joins with one beta subunit (produced from the HEXB gene) to form a functioning beta-hexosaminidase A enzyme. Tay-Sachs disease is caused by a mutation on chromosome 15, specifically in the HEXA gene. HEX A is necessary for degradation of GM2 ganglioside; without well-functioning enzymes, GM2 ganglioside builds up 1 day ago · The role of Scientific Evidence: The HEXA Gene Mutation The turning point in the Folbigg case was the revelation of the HEXA gene mutation. Jul 25, 2025 · Hexa AI is an all-in-one generative design tool powered by artificial intelligence. The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Mutations in the HEXA gene can lead to Tay-Sachs disease, a severe neurological disorder. HEXA is a gene that encodes the alpha subunit of hexosaminidase A, an enzyme involved in the degradation of G M2 gangliosides. The HEXA gene gives the body instructions to make part of the beta-hexosaminidase A enzyme, which is needed to break down a substance called GM2 ganglioside. [1][2] Hexosaminidase A and the cofactor G M2 activator protein catalyze the degradation of the G M2 gangliosides and other molecules containing Mar 26, 2025 · The HEXA gene is responsible for the structure of the HEXA protein, which is a subunit of the hexosaminidase A enzyme. HEXA refers to a gene whose deficiency in activity is associated with certain forms of Tay-Sachs disease, leading to progressive neurological decline and other clinical features. This webpage provides information on the interpretation of genetic testing for Tay-Sachs disease, focusing on the HEXA gene. Jan 27, 2025 · The HEXA gene encodes the structure of the HEXA protein which is a subunit of the enzyme hexosaminidase A. This gene encodes a member of the glycosyl hydrolase 20 family of proteins. This gene has 18 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 7 phenotypes. See full list on mayoclinic. HEXA gene localized on chromosome 15q23-q24, which encodes α-subunit of the lysosomal enzyme β -N-acetylhexosaminidase A. HEXA Gene Sequencing - Tay-Sachs disease (TSD) is a progressive neurodegenerative disease. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. DNA Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of G_M2 gangliosides. png HEXA gene is located on the long (q) arm of chromosome 15 at position 24. org Feb 8, 2025 · Gene target information for HEXA - hexosaminidase subunit alpha (human). HEXA is located at 15q23. , 1990). Despite normal transcription of this allele, HEXA mRNA is severely reduced, indicating that the HEXA transcript must be unstable. The HEXA gene provides instructions for making one part (the alpha subunit) of an enzyme called beta-hexosaminidase A. In this therapy a modified virus (AAVrh8) is used to deliver working copies of the HEXA and HEXB genes into nerve cells. We have sequenced the portions of the introns flanking each of the 14 HEXA May 1, 2002 · Purpose: To characterize novel mutations in the HEXA gene (α-subunit β-hexosaminidase A). A significantly higher activity of N-acetyl-beta-D-hexosaminidase in all laryngeal cancer specimens compared with that in healthy tissue homogenates, was observed. However, deficiencies or reduced activities of HEXA and HEXB result in Sandhoff disease. Dec 7, 2023 · The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase, which is responsible for the breakdown of ganglioside GM2 within the lysosome. The meaning of HEXA- is six. Minigenes of HEXA May 25, 2022 · Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by mutations in the HEXA gene, which encodes the ɑ subunit of the enzyme β-hexosaminidase A. Individuals of French Canadian descent may benefit from targeted Tay-Sachs screening. This registration process only needs to be completed ONCE: To complete this step, login and you will be redirected to our re-registration page. Beta-hexosaminidase is composed of two subunits HEXA () protein expression summary. How to say hexa gene in English? Pronunciation of hexa gene with 22 audio pronunciations and more for hexa gene. (a) The red arrows show the breakpoint of the deletion (the region between these red arrows was completely deleted), blue arrows show the deleted region in the Sanger sequencing chromatogram and blue letters indicate the deleted nucleotides, including all of exons 6–10. Jun 18, 2012 · Tay Sachs disease (TSD) is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. Tay-Sachs disease is caused by a recessively inherited loss-of-function mutation in the gene coding for the α subunit, which is the subunit that hydrolyzes the lipid GM2 ganglioside How To Use CPT Code 81255 CPT 81255 pertains to the genetic analysis of the HEXA gene, specifically focusing on common variants associated with Tay-Sachs disease. The table shows the binary and decimal equivalents of the 16 hexadecimal elements making up the hexadecimal number system. The disorder is characterized by a progressive degeneration of nerve cells May 1, 2002 · Conclusion: Identification of these eight novel mutations provides additional insight to the mutational spectrum for the HEXA gene. Hexosaminidase A (alpha polypeptide), also known as HEXA, is an enzyme that in humans is encoded by the HEXA gene, located on the 15th chromosome. This enzyme is found in lysosomes, organelles that break down large molecules for recycling by the cell. What does it mean to be a Tay-Sachs carrier? Dec 1, 2020 · Tay-Sachs Disease (TSD) is a genetic disorder resulting from mutations in the HEXA gene. Methods: Subjects included participants in the California Tay-Sachs disease prevention program. Infantile TSD is a devastating and fetal neurodegenerative di … Clinical features Mutations of the HEXA gene encoding the α subunit of HexA are the genetic basis of Tay–Sachs disease, which in its classic form usually presents with onset of symptoms in infancy. Whether you're creating a brand, promoting an event, designing personal artwork, or exploring visual ideas, Hexa is a startup studio partnering with founders to build ambitious companies. β-Hexosaminidase and the cofactor G M2 activator protein catalyze the degradation of the G M2 gangliosides and other molecules containing terminal N -acetyl hexosamines. The gene responsible for the juvenile form has been shown by molecular analysis of the HEXA gene to be allelic to that responsible for the classic infantile form of Tay-Sachs disease (Paw et al. These mutations lead to a deficiency or absence of the Hex-A enzyme. The following conversion table illustrates the decimal and hexadecimal systems for digits 0-15:. Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy. This value is calculated by NCBI based on data from submitters. 23andMe tests for four genetic variants in the HEXA gene linked to Tay-Sachs disease and is most relevant for people of Ashkenazi Jewish and Cajun descent. DNA samples from 49 subjects (47 enzymatically defined carriers and 2 disease afflicted) who were negative for the four common disease-associated and the two pseudodeficient mutations, were subjected to single Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene. We're building in lots of different areas with only one focus: software. Tay-Sachs disease is caused by genetic changes in the HEXA gene and inheritance is autosomal recessive. They are the same as the decimal digits up to 9, but then there are the letters A, B, C, D, E and F in place of the decimal numbers 10 to 15: So a single hexadecimal digit can show 16 different values instead of the normal 10. As a result, neither copy of the baby’s HEXA gene works. The affected child would have received a Tay-Sachs is an autosomal recessive disease caused by mutations in both alleles of a gene (HEXA) on chromosome 15. Feb 10, 2022 · First-in-human combined intrathalamic and intrathecal gene therapy in two patients with Tay-Sachs disease provides early evidence on the safety and feasibility of the approach. This rare genetic condition can cause neurological deterioration and sudden infant death, mirroring the symptoms observed in Folbigg’s children. The clinical inclusion criteria included neuroregression, seizures, exaggerated startle reflex Feb 8, 2025 · Gene target information for HEXB - hexosaminidase subunit beta (human). Feb 20, 2025 · Hexadecimal -- also known as base-16 or hex -- is one of four numbering systems. [2] Sep 14, 2016 · The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. Hexadecimal (also known as base-16 or simply hex) is a positional numeral system that represents numbers using a radix (base) of sixteen. The patients manifest with the macular cherry-red spots due to lipid-laden ganglion cells, hypotonia, low muscle tone, intractable seizures The Invitae Tay-Sachs Disease test analyzes HEXA, the gene known to be associated with Tay-Sachs disease (TSD). It is caused by pathogenic mutations in the hexA gene, leading to a deficiency of the enzyme β -hexosaminidase A (HexA), which is responsible for processing GM2 ganglioside into GM3 ganglioside in lysosomes (2, 3). The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24. More than 80 different variants of the HEXA gene have been identified in individuals with the disease. wqqi okf bhxambdi udgbyp gor zcecrj tmfy bbajtg vvrcm plscj