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. One alpha subunit joins with one beta subunit (produced from the HEXB gene) to form a functioning beta-hexosaminidase A enzyme.
Beta-hexosaminidase A plays a critical role in the brain and spinal cord (central nervous system). This enzyme is found in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A forms part of a complex that breaks down a fatty substance called GM2 ganglioside found in cell membranes.
Other Names
Beta-hexosaminidase A; beta-N-Acetylhexosaminidase A; Hex A; HEXA_HUMAN; hexosaminidase A (alpha polypeptide); N-acetyl-beta-glucosaminidase
Related Genetics Topics
Identifiers
- NCBI Gene: 3073
- OMIM: 606869
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
