Mannosidase Alpha Class 2B Member 1 (MAN2B1)

MANB; LAMAN; Lysosomal alpha-mannosidase; Lysosomal acid alpha-mannosidase; Mannosidase alpha-B

SPN	P041
HGNC	6826
MGI	107286
PubMed	22161967
RGD	3039
UniProt	O00754

MAN2B1 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.

Reference

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