VKORC1

Chr 16

vitamin K epoxide reductase complex subunit 1

Also known as: EDTP308, MST134, MST576, VKCFD2, VKOR

NCBI Gene: 79001 ENSG00000167397 UniProt: Q9BQB6

The protein is the catalytic subunit of vitamin K epoxide reductase complex, which reduces inactive vitamin K 2,3-epoxide to active vitamin K required for gamma-carboxylation of clotting factors and normal blood coagulation. Mutations cause combined deficiency of vitamin K-dependent clotting factors type 2, presenting with bleeding disorders that can manifest in infancy or childhood. The condition follows autosomal recessive inheritance.

GeneReviews ResearchSummary from RefSeq, UniProt

This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCombined deficiency of vitamin K-dependent clotting factors 2

UniProtCoumarin resistance

Clinical highlights

Gene-disease validity (ClinGen)

vitamin K-dependent clotting factors, combined deficiency of, type 2 · ARModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.02

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — VKORC1