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. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. 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 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.
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.