Cloned (Comment) | Organism |
---|---|
gene dolk, genotyping and identification of DOLK mutations | Homo sapiens |
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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
microsome | - |
Homo sapiens | - |
- |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
CTP + dolichol | Homo sapiens | - |
CDP + dolichyl phosphate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9UPQ8 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
cell culture | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
CTP + dolichol | - |
Homo sapiens | CDP + dolichyl phosphate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
DOLK | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
CTP | - |
Homo sapiens |
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 |