Gene: PRSS53

Alternate names for this Gene: POL3S|UNQ308

Gene Summary:

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: serine protease 53

Type of Gene: protein-coding

Gene: VKORC1

Alternate names for this Gene: EDTP308|MST134|MST576|VKCFD2|VKOR

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: vitamin K epoxide reductase complex subunit 1

Type of Gene: protein-coding

rs104894542 in PRSS53;VKORC1 gene and Coumarin Resistance PMID 20946155 2011 Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.

PMID 14765194 2004 Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.