The HEXB gene provides instructions for making a protein that is one part (the beta subunit) of two related enzymes, beta-hexosaminidase A and beta-hexosaminidase B. Each of these enzymes is made up of two subunits. Beta-hexosaminidase A includes one alpha subunit (produced from the HEXA gene) and one beta subunit. Beta-hexosaminidase B is composed of two beta subunits.
Beta-hexosaminidase A and beta-hexosaminidase B play a critical role in nerve cells (neurons) in the brain and spinal cord (central nervous system). In neurons, these enzymes are found in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, the beta-hexosaminidase A and B enzymes break down fatty compounds called sphingolipids, complex sugars called oligosaccharides, and molecules that are linked to sugars (such as glycoproteins). In particular, beta-hexosaminidase A forms part of a complex that breaks down a fatty substance called GM2 ganglioside.
Other Names
beta-N-acetylhexosaminidase B; ENC-1AS; Hex B; HEXB_HUMAN; hexosaminidase B; hexosaminidase B (beta polypeptide)
Related Genetics Topics
Identifiers
- NCBI Gene: 3074
- OMIM: 606873
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
