This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011],
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Function:
Catalytic activity:Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2).,cofactor:Calcium.,enzyme regulation:Inhibited by both 1-deoxymannojirimycin and kifunensine.,Function:Involved in the maturation of Asn-linked oligosaccharides. Trim a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2). The only product is the Man(8)GlcNAc(2) isomer B, the form lacking the middle-arm terminal alpha 1,2-mannose. It may be involved in glycoprotein quality control since it is important to target misfolded glycoproteins for degradation.,pathway:Protein modification; protein glycosylation.,similarity:Belongs to the glycosyl hydrolase 47 family.,tissue specificity:Widely expressed.,
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Cellular Localization:
Endoplasmic reticulum membrane ; Single-pass type II membrane protein .
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Tissue Expression:
Widely expressed.
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Research Areas:
>>N-Glycan biosynthesis ;
>>Various types of N-glycan biosynthesis ;
>>Metabolic pathways ;
>>Protein processing in endoplasmic reticulum