Gene: VKORC1

Alternate names for this Gene: EDTP308|MST134|MST576|VKCFD2|VKOR

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: vitamin K epoxide reductase complex subunit 1

Type of Gene: protein-coding

rs8050894 in VKORC1 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs104894539 in VKORC1 gene and Coumarin Resistance PMID 14765194 2004 Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

PMID 20946155 2011 Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.