LP65679-0
VKORC1 gene
Active
Description
The VKORC1 gene (vitamin K epoxide reductase complex, subunit 1) [HGNC Gene ID:23663] is located on chromosome 16p11.2. 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 and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] [NCBI Gene ID:79001] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- VKORC1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-10-17
- Construct for LOINC Short Name
- VKORC1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | VKORC1 基因 Synonyms: VKCFD2; |
| et-EE | Estonian (Estonia) | VKORC1 geen |
| es-ES | Spanish (Spain) | Gen VKORC1 |
| it-IT | Italian (Italy) | VKORC1, gene Synonyms: Gene VKORC1 |
| tr-TR | Turkish (Turkey) | VKORC1 geni |
| ru-RU | Russian (Russian Federation) | VKORC1 ген |
| nl-NL | Dutch (Netherlands) | VKORC1-gen Synonyms: VKORC1 gen |
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