vitamin K epoxide reductase complex subunit 1 (vitamin K1 2,3-epoxide reductase subunit 1, VKORC1, VKOR, MSTP134, MSTP576, UNQ308/PRO351)

Function

• catalytic subunit of vitamin K epoxide reductase complex
• location of Cys within a proposed transmembrane is consistent both with the known hydrophobic environment of the thiol redox site of the enzyme & the lipophilicity of vitamin K & warfarin

Compartment

endoplasmic reticulum membrane

Alternative splicing

named isoforms=2

Expression

• expressed in fetal & adult liver > fetal heart, kidney, & lung, adult heart & pancreas

Pathology

• defects in VKORC1 are associated with combined deficiency of all vitamin K-dependent clotting factors type 2
• defects in VKORC1 are associated with warfarin resistance

More general terms

• enzyme catalytic subunit
• transmembrane 3 protein

Additional terms

• warfarin sensitivity testing (CYP2C8, CYP2C9, CYP4F2, VKORC1)

Component of

• vitamin K epoxide reductase complex (VKOR)

Database

• OMIM: https://mirror.omim.org/entry/122700
• OMIM: https://mirror.omim.org/entry/607473
• OMIM: https://mirror.omim.org/entry/608547
• UniProt: http://www.uniprot.org/uniprot/Q9BQB6.html