Aliases for DOLK Gene
External Ids for DOLK Gene
Previous HGNC Symbols for DOLK Gene
Previous GeneCards Identifiers for DOLK Gene
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]
GeneCards Summary for DOLK Gene
DOLK (Dolichol Kinase) is a Protein Coding gene. Diseases associated with DOLK include Congenital Disorder Of Glycosylation, Type Im and Familial Isolated Dilated Cardiomyopathy. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. Gene Ontology (GO) annotations related to this gene include dolichol kinase activity.
UniProtKB/Swiss-Prot Summary for DOLK Gene
Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors.