What does the hexa gene do. Diseases associated with HEXA include Tay-Sachs Disease and Gm2-Gangliosidosis, Ab Variant. org In Tay–Sachs disease, mutations in HEXA can lead to aberrant α subunits of the HexA enzyme. 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. 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. . Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. Among its related pathways are Glycosaminoglycan metabolism and Sphingolipid metabolism. 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. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. iyrtn ahu dzmksjg pnv pcbro yivjk vjvtrp xycxg qdol iavc