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man2b1

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Official Full Name
mannosidase, alpha, class 2B, member 1
Background
This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Synonyms
MAN2B1; mannosidase, alpha, class 2B, member 1; MANB; lysosomal alpha-mannosidase; LAMAN; EC 3.2.1.24; Lysosomal acid alpha mannosidase; Lysosomal alpha mannosidase; Mannosidase alpha class 2B member 1; Mannosidase, alpha B; Mannosidase, alpha B, lysosomal; mannosidase alpha-B; lysosomal acid alpha-mannosidase; zgc:110815