Gene Symbol | VKORC1 |
Entrez Gene ID | 79001 |
Full Name | vitamin K epoxide reductase complex subunit 1 |
Synonyms | EDTP308,MST134,MST576,VKCFD2,VKOR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Aug 2015]. |
Disorder MIM: | |
Disorder Html: | Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3); Warfarin resistance, 122700 (3) |