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 Dyserythropoietic Anemia and Congenital Disorder Of Glycosylation, Type Ii. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated 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.