Aliases for MAN2A1 Gene
External Ids for MAN2A1 Gene
Previous HGNC Symbols for MAN2A1 Gene
Previous GeneCards Identifiers for MAN2A1 Gene
This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
GeneCards Summary for MAN2A1 Gene
MAN2A1 (Mannosidase, Alpha, Class 2A, Member 1) is a Protein Coding gene. Diseases associated with MAN2A1 include congenital disorder of glycosylation, type ii and mannosidosis. Among its related pathways are Metabolism and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include carbohydrate binding and mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity. An important paralog of this gene is MAN2B1.
UniProtKB/Swiss-Prot for MAN2A1 Gene
Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway
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).