{"symbol":"MAN2B1","synonyms":["MANB","LAMAN"],"name":"mannosidase, alpha, class 2B, member 1","description":"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.[provided by RefSeq, Mar 2010]","ncbiEntrezGeneId":4125,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4125","proteins":[{"symbol":"MA2B1_HUMAN","href":"/api/1.0/protein/MA2B1_HUMAN"}],"hgncRootFamilies":[]}