TMEM15 gene (MIM.610746) encodes the dolichol kinase (DK1), an enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate.
Pathology
congenital disorder of glycosylation type Im (CDG1M), also known as dolichol kinase deficiency (DK1 deficiency), can be caused by mutation in the TMEM15 gene.
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