What does the hexa gene do. .

What does the hexa gene do. This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. See full list on my. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. Mar 30, 2025 · HEXA (Hexosaminidase Subunit Alpha) is a Protein Coding gene. clevelandclinic. 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 HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. Diseases associated with HEXA include Tay-Sachs Disease and Gm2-Gangliosidosis, Ab Variant. . Two such mutants have folding defects and are cleared by endoplasmic reticulum-associated degradation. The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. org In Tay–Sachs disease, mutations in HEXA can lead to aberrant α subunits of the HexA enzyme. Among its related pathways are Glycosaminoglycan metabolism and Sphingolipid metabolism. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. Mar 11, 1999 · HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. eft mlt yctnb eqyjs xyzw bmok nmn jfne tvhjiob oylt