Defective DOLK causes DOLK-CDG (CDG-1m)

Stable Identifier
R-HSA-4755583
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this pathway in the Pathway Browser

Dolichol kinase (DOLK, TMEM15) normally mediates the phosphorylation of dolichol (DCHOL) to form dolichyl phosphate (DOLP) in the ER membrane (Fernandez et al. 2002). DOLP is an important substrate in the synthesis of N- and O-glycosylated proteins and GPI anchors. Defects in DOLK cause congenital disorder of glycosylation type 1m (DOLK-CDG, CDG1m, also known as dolichol kinase deficiency; MIM:610768), a severe mutisystem disorder characterised by under-glycosylated serum glycoproteins. This disorder has a very severe phenotype and death can occur in early life (Kranz et al. 2007).

Literature References
PubMed ID Title Journal Year
12213788 Expression and characterization of a human cDNA that complements the temperature-sensitive defect in dolichol kinase activity in the yeast sec59-1 mutant: the enzymatic phosphorylation of dolichol and diacylglycerol are catalyzed by separate CTP-mediated kinase activities in Saccharomyces cerevisiae

Fernandez, F, Shridas, P, Jiang, S, Aebi, M, Waechter, CJ

Glycobiology 2002
17273964 A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

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

Am J Hum Genet 2007
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Authored
Reviewed
Created
Cite Us!