What does the hexa gene do. HEXA is located at 15q23.

What does the hexa gene do. The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. [5][6] Hexosaminidase A and the cofactor G M2 activator protein catalyze the degradation of the G M2 gangliosides and other molecules containing terminal N-acetyl Jul 17, 2025 · Complete information for HEXA gene (Protein Coding), Hexosaminidase Subunit Alpha, including: function, proteins, disorders, pathways, orthologs, and expression. 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 Feb 8, 2025 · Gene target information for HEXA - hexosaminidase subunit alpha (human). Carrier screening is common for individuals or couples considering a family, especially in higher-risk populations. (1975) concluded that Hex-A has the structure alpha-beta, while Hex-B has the structure beta-beta. More than 130 mutations have been identified, including single gene deletions, substitution, insertion splicing alteration, duplication, and complex gene rearrangements. The HEXA gene gives your cells instructions to make an enzyme (hexosaminidase A) that breaks down toxic substances in your body. A significantly higher activity of N-acetyl-beta-D-hexosaminidase in all laryngeal cancer specimens compared with that in healthy tissue homogenates, was observed. There are many mutations of the HEXA gene that result in Tay-Sachs and many that seem to have no Mar 26, 2025 · The HEXA gene is responsible for the structure of the HEXA protein, which is a subunit of the hexosaminidase A enzyme. [8] Gene mutations in HEXB often result in Sandhoff disease; whereas, mutations in HEXA decrease the hydrolysis of G M2 gangliosides, which is Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified Testing individuals with enzyme activity consistent with carrier status but negative molecular testing by a panel of common mutations 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). GeneCards - The Human Gene Compendium 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. 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. Inheriting two variant copies of the gene (homozygotes) causes a deficiency of the hexosaminidase A enzyme. CANCER BLOOD CELL LINE STRUCT & INT HEXA () protein expression summary. One alpha subunit joins with one beta subunit (produced from the HEXB gene) to form a functioning beta-hexosaminidase A enzyme. 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. 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. Learn about this gene and related health conditions. Another fairly common mutation is a splice junction mutation found at intron twelve (Navon, 1989). . 1. What causes Tay-Sachs disease? A genetic change (mutation) of the HEXA gene causes Tay-Sachs disease. Molecular genetic testing for biallelic pathogenic variants in the HEXA gene is essential for confirming the diagnosis. 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. Jul 27, 2025 · Identifying HEXA gene status and diagnosing Tay-Sachs disease involves several methods. There are 2 isoenzymes of hexosaminidase: Hex-A and Hex-B (HEXB; 606873). This screening typically involves a blood test for beta-hexosaminidase A enzyme activity or a DNA test for HEXA gene alterations. More than 80 different variants of the HEXA gene have been identified in individuals with Tay-Sachs disease. 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 HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. HEXA gene is located on the long (q) arm of chromosome 15 at position 24. Beta-hexosaminidase A plays a critical role in the brain and 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). Cloning and Expression Oct 6, 2024 · [1] Tay-Sachs disease is an autosomal recessive disorder caused by a mutation in HEXA, which encodes the enzymes beta-hexosaminidase A. 2. 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. Beutler et al. The α and β subunits are encoded by separate genes, HEXA and HEXB respectively. HEXA is located at 15q23. HEXA () protein expression summary. 52), a lysosomal enzyme involved in the breakdown of gangliosides. The HEXA gene encodes the alpha subunit of hexosaminidase A (EC 3. If this enzyme isn’t available to do its job, a fatty substance collects in your cells. [2] Sep 14, 2016 · The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. skjk jtp tftulr gaisiocq jpgzm need yyyylked uqbd daqdc rpq