Entrez gene ID | | 440138 |
Official gene symbol | | ALG11 |
Full name | | asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast) |
Aliases | | ,GT8,KIAA0266,UTP14C, |
Gene summary | | This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq] |
Location | | Chromosome: 13 Locus: 13q14.2 |
Gene position | | 52586550 - 52603780 Map Viewer |
Gene orientation | | plus |
Gene size | | 17231 bp |
Gene sequence |
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OMIM ID | | 613666 |
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