Search results for DOLK

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Identifier: R-HSA-4755583
Species: Homo sapiens
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).
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