DOLK : dolichol kinase
Description
The DOLK (dolichol kinase) is a protein-coding gene located on chromosome 9.
The DOLK gene provides instructions for making the dolichol kinase enzyme, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation changes proteins in ways that are important for their functions. Dolichol kinase is found in the membrane of a cell compartment called the endoplasmic reticulum, which is involved in protein processing and transport. This enzyme adds a phosphate group (a cluster of oxygen and phosphorus atoms) to the compound dolichol to produce dolichol phosphate. During glycosylation, sugars are added to dolichol phosphate to build the oligosaccharide chain. Once the chain is formed, dolichol phosphate transports the oligosaccharide to the protein that needs to be glycosylated and attaches it to a specific site on the protein. Dolichol phosphate is also needed for the formation of GPI anchors. These are complexes that attach (bind) to proteins and then bind to the outer surface of the cell membrane to ensure that the protein is available on the cell surface when needed.
Catalyzes CTP-mediated phosphorylation of dolichol, the final step in de novo dolichyl monophosphate (Dol-P) biosynthesis. Dol-P is a lipid carrier essential for the synthesis of N-linked and O-linked oligosaccharides and for GPI anchors. (PMID:12213788, PMID:16923818, PMID:17273964)
DOLK is also known as CDG1M, DK, DK1, SEC59, TMEM15.
Associated Diseases
- DK1-CDG
- Congenital disorder of glycosylation, type Im
- Familial isolated dilated cardiomyopathy
- DOLK-congenital disorder of glycosylation
