VKORC1

VKORC1
Identifiers
Aliases	VKORC1, EDTP308, IMAGE3455200, MST134, MST576, VKCFD2, VKOR, vitamin K epoxide reductase complex subunit 1
External IDs	OMIM: 608547; MGI: 106442; HomoloGene: 11416; GeneCards: VKORC1; OMA:VKORC1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p11.2 Start 31,090,842 bp[1] End 31,095,980 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 F3|7 69.81 cM Start 127,492,235 bp[2] End 127,494,789 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium right lobe of liver thoracic aorta ascending aorta Descending thoracic aorta right coronary artery body of pancreas left coronary artery right ovary pituitary gland Top expressed in primary oocyte secondary oocyte zygote islet of Langerhans yolk sac urinary bladder liver right kidney proximal tubule white adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity vitamin-K-epoxide reductase (warfarin-sensitive) activity quinone binding vitamin-K-epoxide reductase (warfarin-insensitive) activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane endoplasmic reticulum intracellular membrane-bounded organelle Biological process peptidyl-glutamic acid carboxylation blood coagulation bone development vitamin K metabolic process response to organonitrogen compound response to organic cyclic compound regulation of blood coagulation response to antibiotic Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79001 27973 Ensembl ENSG00000167397 ENSMUSG00000096145 UniProt Q9BQB6 Q9CRC0 RefSeq (mRNA) NM_001311311 NM_024006 NM_206824 NM_178600 RefSeq (protein) NP_001298240 NP_076869 NP_996560 NP_848715 Location (UCSC) Chr 16: 31.09 – 31.1 Mb Chr 7: 127.49 – 127.49 Mb PubMed search [3] [4]
Wikidata
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The human gene VKORC1 encodes for the enzyme, Vitamin K epOxide Reductase Complex subunit 1.^[5] This protein complex is important for reducing vitamin K 2,3-epoxide to it's active form, which is important for effective clotting.

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In humans, mutations in this gene are associated with deficiencies in vitamin-K-dependent clotting factors. Fatal bleeding (internal) and hemorrhage can result from a decreased ability to form clots.

The product of the VKORC1 gene encodes a subunit of the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the activated form, a reduction reaction. A genetic polymorphism on the VKORC1 gene results in a patient having less available VKORC enzyme to complete this reaction.

Specifically, in the VKORC1 1639 (or 3673) single-nucleotide polymorphism, the common ("wild-type") G allele is replaced by the A allele. People with an A allele (or the "A haplotype") produce less VKORC1 than do those with the G allele (or the "non-A haplotype"). The prevalence of these variants also varies by race, with 37% of Caucasians and 14% of Africans carrying the A allele.The end result is a decreased amount of clotting factors and therefore, a decreased ability to clot.

Warfarin is an anticoagulant that opposes the procoagulant effect of vitamin K by inhibiting the VKORC enzyme. If these patients are prescribed warfarin for another medical purpose, they will require lower doses than usual because the patient is already deficient in VKORC. They may experience severe bleeding and bruising. Lower warfarin doses are needed to inhibit VKORC1 and to produce an anticoagulant effect in carriers of the A allele. Genetic testing can reveal the presence of the genetic mutation and FDA] recommends lower starting doses of warfarin in these patients.

Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have also been described. These isoforms result in warfarin resistance (requiring higher doses) in humans and rats, because the amount and effectiveness of the VKORC enzyme has not changed, but the ability of warfarin to exert it's effect (antagonize the enzyme) has changed. These isoform mutations are rare except in Ethiopian and certain Jewish populations.

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