Dolichol kinase (DOLK, TMEM15) mediates the phosphorylation of dolichol (DCHOL) to form dolichyl phosphate (DOLP) in the ER membrane (Fernandez et al. 2002). Defects in DOLK cause congenital disorder of glycosylation type 1M (CDG1M aka dolichol kinase deficiency; MIM:610768), a severe multisystem disorder characterised by under-glycosylated serum glycoproteins which results in nervous system under-development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. Death occurs in early life (Kranz et al. 2007).
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
Shridas, P, Fernandez, F, Jiang, S, Waechter, CJ, Aebi, M
dolichol kinase activity of DOLK [endoplasmic reticulum membrane]
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