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Literature summary extracted from

  • Denecke, J.; Kranz, C.
    Hypoglycosylation due to dolichol metabolism defects (2009), Biochim. Biophys. Acta, 1792, 888-895.
    View publication on PubMed

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
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CDP + dolichyl phosphate
-
?
2.7.1.108 additional information Homo sapiens the chain length of eukaryotic dolichol molecules is species specific and differs from 14-17 isoprene units in unicellular organisms like the yeasts Saccharomyces cerevisiae and Schizosaccharomyces pombe, mammalian cells produce longer dolichol molecules with 18-21 isoprene units ?
-
?

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.108 fibroblast dermal 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
-
?
2.7.1.108 additional information the chain length of eukaryotic dolichol molecules is species specific and differs from 14-17 isoprene units in unicellular organisms like the yeasts Saccharomyces cerevisiae and Schizosaccharomyces pombe, mammalian cells produce longer dolichol molecules with 18-21 isoprene units Homo sapiens ?
-
?

Synonyms

EC Number Synonyms Comment Organism
2.7.1.108 DK1
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Homo sapiens
2.7.1.108 dolichol kinase
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Homo sapiens
2.7.1.108 dolichol-specific kinase
-
Homo sapiens

General Information

EC Number General Information Comment Organism
2.7.1.108 malfunction a deficiency of dolichol kinase, catalyzing the final step of dolichol phosphate synthesis is the first defect of the dolichyl phosphate pathway known to cause a severe hypoglycosylation phenotype in humans, length, weight and head circumference are normal at birth but secondary microcephaly, developing in the first month of life is a common finding in all patients Homo sapiens
2.7.1.108 malfunction identifikation of 4 patients who are homozygous for one of 2 mutations (C99S and Y441S) in the corresponding hDK1 gene, the residual activity of mutant is 2-4% when compared with control cells, the mutated alleles fail to complement the temperature-sensitive phenotype of dolichol kinase-deficient yeast cells, whereas the wild-type allele restores the normal growth phenotype, affected patients present with a very severe clinical phenotype, with death in early infancy, 2 of the patients died from dilative cardiomyopathy Homo sapiens
2.7.1.108 metabolism dolichol metabolim, the enzymatic product dolichyl phosphate is a lipid carrier embedded in the endoplasmic reticulum membrane essential for the synthesis of N-glycans, GPI-anchors and protein C- and O-mannosylation Homo sapiens