Entrez gene ID | | 4125 |
Official gene symbol | | MAN2B1 |
Full name | | mannosidase, alpha, class 2B, member 1 |
Aliases | | ,LAMAN,MANB, |
Gene summary | | 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] |
Location | | Chromosome: 19 Locus: 19cen-q13.1 |
Gene position | | 12777591 - 12757322 Map Viewer |
Gene orientation | | minus |
Gene size | | 20270 bp |
Gene sequence |
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OMIM ID | | 609458 |
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