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DOLK

Synonyms
CDG1M, DK, DK1, SEC59, TMEM15
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,472
Likely benign
2,201
Benign
66

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DOLK gene.

Phenotype class
Patients in 3billion (%)

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