DOLK
Chr 9ARdolichol kinase
The protein catalyzes the CTP-mediated phosphorylation of dolichol to synthesize Dol-P-Man, an essential glycosyl carrier lipid required for protein glycosylation and glycosyl phosphatidylinositol anchor biosynthesis in the endoplasmic reticulum. Mutations cause congenital disorder of glycosylation type Im through autosomal recessive inheritance. The pathogenic mechanism involves dominant-negative effects of mutant protein.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DOLK · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools