Aliases for MAN2B1 Gene
External Ids for MAN2B1 Gene
Previous HGNC Symbols for MAN2B1 Gene
Previous GeneCards Identifiers for MAN2B1 Gene
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]
GeneCards Summary for MAN2B1 Gene
MAN2B1 (Mannosidase, Alpha, Class 2B, Member 1) is a Protein Coding gene. Diseases associated with MAN2B1 include mannosidosis, alpha-, types i and ii and alpha-mannosidosis, infantile form. Among its related pathways are Lysosome and Other glycan degradation. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity. An important paralog of this gene is MAN2A2.
UniProtKB/Swiss-Prot for MAN2B1 Gene
Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages
Mannosidases are divided into two subtypes; I and II, (EC numbers 126.96.36.199 and 188.8.131.52 respectively) which display a wide expression pattern. Mannosidase I hydrolyzes (1,2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man9(GlcNAc)2 and mannosidase II hydrolyzes (1,3)- and (1,6)-linked alpha-D-mannose residues in Man5(GlcNAc)3. Both subtypes require a divalent cation cofactor. Mutations in mannosidases can cause mannosidosis (mannosidase I deficiency).