Entrez gene ID | | 79087 |
Official gene symbol | | ALG12 |
Full name | | asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) |
Aliases | | ,CDG1G,ECM39,MGC111358,MGC3136,PP14673,hALG12, |
Gene summary | | This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q13.33 |
Gene position | | 50312106 - 50296852 Map Viewer |
Gene orientation | | minus |
Gene size | | 15255 bp |
Gene sequence |
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OMIM ID | | 607144 |
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