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FLASH GENE
Symbol VKORC1 contributors: mct - updated : 07-04-2014
HGNC name vitamin K epoxide reductase complex, subunit 1
HGNC id 23663
ASSOCIATED DISORDERS
corresponding disease(s) VKCFD2
Susceptibility
  • to warfarin sensitivity
  • to systemic lupus erythematosus (SLE)
  • to coronary artery disease in the presence of coronary calcification
  • Variant & Polymorphism other
  • promoter polymorphism (-1639 G>A) presented in the homozygous form (genotype AA) was found in all warfarin-sensitive patients
  • genetic variants in VKORC1, which are involved in vitamin K reduction and associated with DVT, correlate with SLE development
  • rs2359612C allele is associated with increased risk of coronary artery disease in the presence of coronary calcification
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous Vkorc1-deficient mice developed normally until birth, but within 2-20 days after birth, the knockout mice died due to extensive, predominantly intracerebral haemorrhage
  • homozygous Vkorc1-/- mice die in 220 days after birth by extensive bleeding due to a total deficiency of the gamma-carboxylation of the clotting factors in liver