Hexa gene. , 1996; Mahuran, 1999).

Hexa gene. Loss of function in either subunit of HexA or its adaptor protein can lead to GM2 gangliosidosis. 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 buildup primarily affects the brain and spinal cord, destroying nerve cells. Molecular genetic testing for biallelic pathogenic variants in the HEXA gene is essential for confirming the diagnosis. org HEXA encodes the alpha subunit of hexosaminidase A, a lysosomal enzyme involved in ganglioside degradation. See full list on mayoclinic. Inheriting two variant copies of the gene (homozygotes) causes a deficiency of the hexosaminidase A enzyme. One alpha subunit joins with one beta subunit (produced from the HEXB gene) to form a functioning beta-hexosaminidase A enzyme. HEXA is located at 15q23. The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. [2] 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). Healthcare providers may refer to this condition as hexosaminidase A deficiency or hex A deficiency. The HEXA gene encodes the alpha subunit of beta-hexosaminidase A, an enzyme that breaks down GM2 ganglioside in the brain and spinal cord. 1. A significantly higher activity of N-acetyl-beta-D-hexosaminidase in all laryngeal cancer specimens compared with that in healthy tissue homogenates, was observed. The breakpoint of the deletion and deleted region in the HEXA gene. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. What does it mean to be a Tay-Sachs carrier? Mar 26, 2025 · The HEXA gene is responsible for the structure of the HEXA protein, which is a subunit of the hexosaminidase A enzyme. 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. As a result, neither copy of the baby’s HEXA gene works. Jul 27, 2025 · Alterations in the HEXA gene lead to a deficiency in the beta-hexosaminidase A enzyme. Dec 1, 2020 · Tay-Sachs Disease (TSD) is a genetic disorder resulting from mutations in the HEXA gene. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. This prevents GM2 ganglioside breakdown, causing progressive accumulation within nerve cell lysosomes. HEXA is a gene that encodes the alpha subunit of hexosaminidase A, an enzyme involved in the degradation of G M2 gangliosides. 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. Another fairly common mutation is a splice junction mutation found at intron twelve (Navon, 1989). Mutations in the HEXA gene cause Tay-Sachs disease, a rare and fatal neurological disorder that affects infants and children. [1][2] Hexosaminidase A and the cofactor G M2 activator protein catalyze the degradation of the G M2 gangliosides and other molecules containing Tay-Sachs disease happens when both parents have a mutated HEXA gene and pass it on to their children. Mutations in HEXA cause Tay–Sachs disease, a fatal neurodegenerative disorder. 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. Mutations in HEXA cause Tay-Sachs disease and other GM2 gangliosidoses. There are many mutations of the HEXA gene that result in Tay-Sachs and many that seem to have no Sep 14, 2016 · The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. 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. Linkage analysis of polymorphic markers such as single nucleo…. Oct 6, 2024 · Tay-Sachs disease is an autosomal recessive disorder caused by a mutation in HEXA, which encodes the enzymes beta-hexosaminidase A. Jul 17, 2025 · HEXA is a gene that encodes the alpha subunit of beta-hexosaminidase, an enzyme involved in lysosomal degradation of GM2 ganglioside. Beta-hexosaminidase A plays a critical role in the brain and File:HEXA location. More than 130 mutations have been identified, including single gene deletions, substitution, insertion splicing alteration, duplication, and complex gene rearrangements. Feb 8, 2025 · Gene target information for HEXA - hexosaminidase subunit alpha (human). 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. Click the + buttons to view associations for HEXA 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). More than 80 different variants of the HEXA gene have been identified in individuals with Tay-Sachs disease. Mutations in HEXA cause Tay-Sachs disease, Sandhoff disease, and GM2-gangliosidosis. , 1996; Mahuran, 1999). png HEXA gene is located on the long (q) arm of chromosome 15 at position 24. (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. nniyor bnfd chwutcm wxjjyo ywjfp kheg zav htp feig gxbd