Gene Symbol | DOLK |
Entrez Gene ID | 22845 |
Full Name | dolichol kinase |
Synonyms | CDG1M,DK,DK1,SEC59,TMEM15 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]. COMPLETENESS: complete on the 3' end. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type Im, 610768 (3) |