VKORC1

Vitamin K epoxide reductase complex, subunit 1
Identifiers
Symbols VKORC1 ; EDTP308; MST134; MST576; VKCFD2; VKOR
External IDs OMIM: 608547 MGI: 106442 HomoloGene: 11416 ChEMBL: 1930 GeneCards: VKORC1 Gene
EC number 1.17.4.4
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 79001 27973
Ensembl ENSG00000167397 ENSMUSG00000096145
UniProt Q9BQB6 Q9CRC0
RefSeq (mRNA) NM_001311311 NM_178600
RefSeq (protein) NP_001298240 NP_848715
Location (UCSC) Chr 16:
31.09 – 31.1 Mb
Chr 7:
127.89 – 127.9 Mb
PubMed search

Vitamin K epoxide reductase complex subunit 1 is an enzyme that in humans is encoded by the VKORC1 gene.[1]

Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors. In humans and rats it has also been associated with warfarin resistance - but these mutations are rare except in Ethiopian and certain Jewish populations. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described.[1]

References

Further reading

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