CDG1M
Dolichol phosphate is involved in several glycosylation reactions, such as N-glycosylation, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, and C- and O-mannosylation.
Pathology
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.
See also
CDGs (CDG syndromes, congenital disorders of glycosylation)
References
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