Relevance to Autism

A homozygous variant in the DOLK gene predicted to abolish the initiator Met residue and prevent translation (p.M1?; c.2T>C) was identified in two affected siblings born to consanguineous parents who presented with West syndrome that later developed into intellectual disability and, in one case, ASD (Helander et al., 2013).

Molecular Function

The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency (DOLK-CDG) [MIM:610768], a type of congenital disorder of glycosylation.

External Links

References