RGD Reference Report - Structural Modeling Insights into Human VKORC1 Phenotypes. - Rat Genome Database

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Structural Modeling Insights into Human VKORC1 Phenotypes.

Authors: Czogalla, KJ  Watzka, M  Oldenburg, J 
Citation: Czogalla KJ, etal., Nutrients. 2015 Aug 14;7(8):6837-51. doi: 10.3390/nu7085313.
RGD ID: 11354881
Pubmed: PMID:26287237   (View Abstract at PubMed)
PMCID: PMC4555152   (View Article at PubMed Central)
DOI: DOI:10.3390/nu7085313   (Journal Full-text)

Vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1) catalyses the reduction of vitamin K and its 2,3-epoxide essential to sustain gamma-carboxylation of vitamin K-dependent proteins. Two different phenotypes are associated with mutations in human VKORC1. The majority of mutations cause resistance to 4-hydroxycoumarin- and indandione-based vitamin K antagonists (VKA) used in the prevention and therapy of thromboembolism. Patients with these mutations require greater doses of VKA for stable anticoagulation than patients without mutations. The second phenotype, a very rare autosomal-recessive bleeding disorder caused by combined deficiency of vitamin K dependent clotting factors type 2 (VKCFD2) arises from a homozygous Arg98Trp mutation. The bleeding phenotype can be corrected by vitamin K administration. Here, we summarize published experimental data and in silico modeling results in order to rationalize the mechanisms of VKA resistance and VKCFD2.

Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
warfarin pharmacodynamics pathway   TAS 11354881 RGD 
warfarin pharmacodynamics pathway   ISOVKORC1 (Homo sapiens)11354881; 11354881 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Vkorc1  (vitamin K epoxide reductase complex, subunit 1)

Genes (Mus musculus)
Vkorc1  (vitamin K epoxide reductase complex, subunit 1)

Genes (Homo sapiens)
VKORC1  (vitamin K epoxide reductase complex subunit 1)


Additional Information