VKORC1 Antibody – Rabbit Polyclonal

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]

VKORC1: 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. Defects in VKORC1 are a cause of combined deficiency of vitamin K-dependent clotting factors type 2 (VKCFD2). VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Defects in VKORC1 are a cause of coumarin resistance (CMRES). A condition characterized by partial or complete resistance to warfarin or other 4-hydroxycoumarin derivatives. These drugs are used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. Belongs to the VKOR family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Oxidoreductase; EC 1.1.4.1; Endoplasmic reticulum; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: vitamin-K-epoxide reductase (warfarin-sensitive) activity; quinone binding

Biological Process: cellular protein metabolic process; vitamin K metabolic process; drug metabolic process; blood coagulation; post-translational protein modification; peptidyl-glutamic acid carboxylation

Disease: Coumarin Resistance; Vitamin K-dependent Clotting Factors, Combined Deficiency Of, 2