| 简介 | 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]
Diseases associated with DOLK include Congenital Disorder Of Glycosylation, Type Im and Familial Isolated Dilated Cardiomyopathy. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Diseases of glycosylation. Gene Ontology (GO) annotations related to this gene include dolichol kinase activity.
Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis (PubMed:12213788, 16923818, 17273964).
Dol-P is a lipid carrier essential for the synthesis of N-linked and O-linked oligosaccharides and for GPI anchors (PubMed:12213788).
Endoplasmic reticulum membrane; Multi-pass membrane protein {ECO:0000269 PubMed:16923818 | ECO:0000305}5
Miscellaneous:
Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells. |
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