Wednesday 7 November 2007
Dolichol phosphate is involved in several glycosylation reactions, such as N-glycosylation, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, and C- and O-mannosylation.
congenital disorder of glycosylation type Im (CDG1M), or dolichol kinase deficiency, is caused by mutation in the TMEM15 gene (MIM. 610746), which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate. (17273964)
- DK1 is responsible for the final step of the de novo biosynthesis of dolichol phosphate.
- Affected patients present with a very severe clinical phenotype, with death in early infancy. Two of the patients died from dilatated cardiomyopathy.
CDGs (CDG syndromes, congenital disorders of glycosylation)
Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet. 2007 Mar;80(3):433-40. PMID: 17273964