VKORC1

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]

Description

Vitamin K epoxide reductase complex subunit 1

Tissue specificity

Tissue enhanced (liver)

Subcell location

Endoplasmic reticulum

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

16:p11.2 (31090842 - 31095980)

Ensembl ID

ENSG00000167397  (ver. 103.38)

Orthologs

-

UniProt

Q9BQB6

neXtProt

NX_Q9BQB6

Human splice variants