Dolichol Kinase

Alternative Names

  • DOLK
  • Dolichol Kinase
  • DK1
  • SEC59, Yeast, Homolog of
  • SEC59
  • KIAA1094
  • Transmembrane Protein 15
  • TMEM15
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OMIM Number

610746

NCBI Gene ID

22845

Uniprot ID

Q9UPQ8

Length

2,074 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Dolichol kinase

Molecular Mass

59268 Da

Amino Acid Count

538

Genomic Location

chr9:128,945,529-128,947,602

Gene Map Locus
9q34.11

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014908.4:c.1450A>GLebanonchr9:128945854Benign, Likely BenignLikely PathogenicCongenital Disorder of Glycosylation, Type ImNG_017009.1:g.6880A>G; NM_014908.4:c.1450A>G; NP_055723.1:p.Ile484Val147630977226616
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