dolichol phosphate biosynthesis
Dolichol phosphate is involved in several glycosylation reactions, such as N-glycosylation, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, and C- and O-mannosylation.
Pathology
CDG1M or dolichol kinase (DK1) deficiency (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.
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