Immunogen sequence: PSVSAKPGPA LWPLPLSVKM TPNLLHLAPE NFYISHSPNS TAGPSCTLLE EAFRRYHGYI
Highest antigen sequence identity to the following orthologs: Mouse - 60%, Rat - 60%.
Hexosaminidase B (HEXB), also designated beta-hexosaminidase B, is a Hexosaminidase B (HEXB), also designated b-hexosaminidase B, is a tetramer of two b-A and two b-B chains and is found in the lysosomes of cells. Sandhoff disease (SD), also known as GM2-gangliosidosis type II, is caused by mutations in the HEXB gene that affect the b subunit. These mutations disrupt the activity of HEXB and HEXA, which prevents the breakdown of GM2 ganglioside, a fatty material found in the brain, therby rendering both the HEXA and HEXB enzymes deficient. SD is a rare autosomal recessive disorder characterized by an accumulation of GM2 ganglioside, which causes progressive destruction of the central nervous system. Sandhoff disease is similar to Tay-Sachs disease, which is caused by mutations in the HEXA gene, although SD is more severe.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Beta-hexosaminidase subunit beta; Beta-hexosaminidase subunit beta chain A; Beta-hexosaminidase subunit beta chain B; Beta-N-acetylhexosaminidase subunit beta; Cervical cancer proto-oncogene 7 protein; epididymis luminal protein 248; epididymis secretory protein Li 111; HCC-7; hexosaminidase B (beta polypeptide); Hexosaminidase subunit B; N-acetyl-beta-glucosaminidase subunit beta
Gene Aliases: ENC-1AS; HCC7; HEL-248; HEL-S-111; HEXB
UniProt ID: (Human) P07686
Entrez Gene ID: (Human) 3074
Molecular Function: glycosidase