背景
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.
