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The syndrome is caused by a deficiency in dolichol kinase 1 (dk1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the dk1 gene led to a 96 to 98% reduction in dk activity.
However, this nomenclature comprises only n-glycosylation deficiencies leaving with dolk-cdg (mim: 610768), caused by dolichol kinase deficiency [252].
In arabidopsis, evn is a single copy gene with characterized orthologs in yeast [42], mammals [43,44], and humans [45], where dolichol kinase deficiency results in hypoglycosylation and lethality.
108 - dolichol kinase for references in articles please use brenda:ec2.
An early step in this process requires dolichol kinase (dk) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing.
N-linked glycosylation is a cotranslational modification and n-glycan is transferred en bloc from llo to asparagine residues in proteinsllo is built up on dol-p by the addition of glcnac-phosphate from udp-glcnac, which synthesizes dol-pp-glcnac, followed by sequential addition of single monosaccharides, resulting in the formation of the mature llo, glc 3 man 9 glcnac 2-pp-dolichol.
Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.
Rhabdomyolysis is a potentially life-threatening syndrome resulting from the breakdown of skeletal muscle fibers with leakage of muscle contents into the circulation.
T1 - dolichol kinase deficiency (dolk-cdg) t2 - two new cases and expansion of phenotype.
Arabidopsis dolichol kinase 1, atdok1 (at3g45040), encodes a functional dolichol kinase that is involved in plant reproductive processes. The expression of atdok1 is limited to highly pluripotent cells although protein glycosylation is thought to be required ubiquitously in the entire plant body.
108) is an enzyme that catalyzes the chemical reaction ctp + dolichol ⇌ \displaystyle \rightleftharpoons cdp + dolichyl phosphate thus, the two substrates of this enzyme are ctp and dolichol whereas its two products are cdp and dolichyl phosphate.
The lipid anchor dolichol (dol) is synthesized from an intermediate (farnesyl-pyrophosphate) in the cholesterol biosynthesis and is activated to dol- p via the action of dolichol kinase. Thereafter, the lipid carrier is added a glcnac residue via the action of glcnac-1-phosphotransferase, using udp-glcnac as donor.
In all individuals, pathogenic mutations were identified in dolk, encoding the dolichol kinase responsible for formation of dolichol-phosphate. Enzyme analysis in patients' fibroblasts confirmed a dolichol kinase deficiency in all families.
The following study describes the discovery of a new inherited metabolic disorder, dolichol kinase (dk1) deficiency. Dk1 is responsible for the final step of the de novo biosynthesis of dolichol phosphate. Dolichol phosphate is involved in several glycosylation reactions, such as n-glycosylation, glycosylphosphatidylinositol (gpi)-anchor biosynthesis, and c- and o-mannosylation.
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