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Immunogen sequence: MELCGLGLP RPPMLLALLL ATLLAAMLAL LTQVALVVQV AEAARAPSVS AKPGPALWPL PLSVKMTPNL LHLAPENFYI SHSPNSTAGP SCTLLEEAFR RYHGYIFGFY KWHHEPAEFQ AKTQVQQLLV SITLQSECDA FPNISSDESY TLLVKEPVAV LKANRVWGAL RGLETFSQLV YQDSYGTFTI NESTIIDSPR FSHRGILIDT SRHYLPVKII LKTLDAMAFN KFNVLHWHIV DDQSFPYQSI TFPELSNKGS YSLSHVYTPN DVRMVIEYAR LRGIRVLPEF DTPGHTLSWG KGQKDLLTPC YSRQNKLDSF GPINPTLNTT YSF (1-332 aa encoded by BC017378)
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.
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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
Molecular Function: glycosidase