Gene Symbol | ALG12 |
Entrez Gene ID | 79087 |
Full Name | ALG12, alpha-1,6-mannosyltransferase |
Synonyms | CDG1G,ECM39,PP14673,hALG12 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type Ig, 607143 (3) |