HEXA Antibodies

Target Information

This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I).

Synonyms

beta-hexosaminidase alpha-subunit; beta-hexosaminidase subunit alpha; Beta-hexosaminidase subunit beta; Beta-hexosaminidase subunit beta chain A; Beta-hexosaminidase subunit beta chain B; Beta-N-acetylhexosaminidase subunit alpha; beta-N-acetylhexosaminidase subunit beta; Cervical cancer proto-oncogene 7 protein; EC 3.2.1; EC 3.2.1.52; ENC-1AS; epididymis luminal protein 248; epididymis secretory protein Li 111; glycosidase; HCC7; HCC-7; HEL-248; HEL-S-111; Hex-1; HEXA; Hexb; hexosaminidase A; hexosaminidase A (alpha polypeptide); hexosaminidase A alpha; hexosaminidase B; hexosaminidase B (beta polypeptide); hexosaminidase subunit A; hexosaminidase subunit alpha; hexosaminidase subunit B; hexosaminidase subunit beta; Hexose aminidase A (alpha polypeptide); MGC99608; N-acetyl-beta-glucosaminidase subunit alpha; N-acetyl-beta-glucosaminidase subunit beta; TSD