Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol:
MAN2B1
Name:
mannosidase alpha class 2B member 1
Location:
19p13.13
Locus Group:
protein-coding gene
Gene Type:
Protein Coding
Locus Type:
gene with protein product
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: mannosidase, alpha, class 2B, member 1
Symbol:
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 remainer 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 shown to be the cause of lysosomal alpha-mannosidosis (AM), a lysosomal storage disease characterized by the accumulation of unbranched oligosaccharide chains.
