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Literature summary extracted from

  • Lieu, M.T.; Ng, B.G.; Rush, J.S.; Wood, T.; Basehore, M.J.; Hegde, M.; Chang, R.C.; Abdenur, J.E.; Freeze, H.H.; Wang, R.Y.
    Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation (2013), Mol. Genet. Metab., 110, 484-489.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.1.108 gene dolk, genotyping and identification of DOLK mutations Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.1.108 Q483K naturally occuring homozygous c.1447C>A DOLK mutation involved in enzyme deficiency and a phenotype with anatomic malformations and multi-systemic dysfunction Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.7.1.108 microsome
-
 Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.1.108 CTP + dolichol Homo sapiens
-
 CDP + dolichyl phosphate
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.108 Homo sapiens Q9UPQ8
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.108 cell culture
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.1.108 CTP + dolichol
-
 Homo sapiens CDP + dolichyl phosphate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.7.1.108 DOLK
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
2.7.1.108 CTP
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.7.1.108 malfunction human DOLK deficiency, also known as DOLK-CDG or CDG-Im, results in a syndrome that manifests with dilated cardiomyopathy of variable severity, phenotype with dysmorphic features, genital abnormalities, talipes equinovarus, and severe, refractory generalized seizures. Additional multi-systemicmanifestations develop including dilated cardiomyopathy, hepatomegaly, severe insulin-resistant hyperglycemia, and renal failure, which are ultimately fatal in the first months Homo sapiens
2.7.1.108 metabolism the enzyme catalyzing the final step in the biosynthesis of dolichol phosphate Homo sapiens
2.7.1.108 physiological function dolichol kinase catalyzes the final step in biosynthesis of dolichol phosphate, which is the oligosaccharide carrier required for protein N-glycosylation Homo sapiens