Aliases for VKORC1 Gene
External Ids for VKORC1 Gene
Previous HGNC Symbols for VKORC1 Gene
Previous GeneCards Identifiers for VKORC1 Gene
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]
GeneCards Summary for VKORC1 Gene
VKORC1 (Vitamin K Epoxide Reductase Complex, Subunit 1) is a Protein Coding gene. Diseases associated with VKORC1 include coumarin resistance and vitamin k antagonists toxicity or dose selection. Among its related pathways are Transport to the Golgi and subsequent modification and Gamma carboxylation, hypusine formation and arylsulfatase activation. GO annotations related to this gene include quinone binding and vitamin-K-epoxide reductase (warfarin-sensitive) activity. An important paralog of this gene is VKORC1L1.
UniProtKB/Swiss-Prot for VKORC1 Gene
Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development.