Aliases for HEXB Gene
External Ids for HEXB Gene
Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
GeneCards Summary for HEXB Gene
HEXB (Hexosaminidase B (Beta Polypeptide)) is a Protein Coding gene. Diseases associated with HEXB include sandhoff disease, infantile form and sandhoff disease, infantile, juvenile, and adult forms. Among its related pathways are Disease and Sphingolipid metabolism. GO annotations related to this gene include protein homodimerization activity and beta-N-acetylhexosaminidase activity. An important paralog of this gene is HEXA.
UniProtKB/Swiss-Prot for HEXB Gene
Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues