Defective DOLK causes DOLK-CDG

Stable Identifier
Homo sapiens
Defective DOLK causes CDG-1m
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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
17273964 A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

Denecke, J, Jungeblut, C, Grobe, H, Debus, V, Reichel, S, Hammersen, G, Kranz, C, Reith, A, Erlekotte, A, Schwarzer, U, Harms, E, Kehl, HG, Marquardt, T, Sohlbach, C

Am J Hum Genet 2007
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

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

Glycobiology 2002
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