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Literature summary for 2.7.1.108 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
Search for more literature for 2.7.1.108

Cloned(Commentary)

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

Protein Variants

Protein Variants Comment Organism
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

Localization Comment Organism GeneOntology No. Textmining
microsome
-
 Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9UPQ8
-
-

Source Tissue

Source Tissue Comment Organism Textmining
cell culture
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
DOLK
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
CTP
-
 Homo sapiens

General Information

General Information Comment Organism
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
metabolism the enzyme catalyzing the final step in the biosynthesis of dolichol phosphate Homo sapiens
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