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hexb

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Official Full Name
hexosaminidase B (beta polypeptide)
Background
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).
Synonyms
HEXB; hexosaminidase B (beta polypeptide); beta-hexosaminidase subunit beta; Beta hexosaminidase beta chain; Beta N acetylhexosaminidase; Beta-hexosaminidase subunit beta chain A; Beta-N-acetylhexosaminidase subunit beta; Cervical cancer proto oncogene 7 protein; Cervical cancer proto-oncogene 7 protein; ENC 1AS; HCC 7; HCC-7; HCC7; HEX B; HEXB_HUMAN; Hexosaminidase B; Hexosaminidase subunit B; HexosaminidaseB; N acetyl beta glucosaminidase; N-acetyl-beta-glucosaminidase subunit beta; ENC-1AS

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