protein C4orf54; Familial obliterative portal venopathy (C4orf54, FOPV)
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Expression
- expressed in muscle, heart, kidney & liver
- barely detectable in lung, pancreas & brain
- In liver veins, expressed in hepatic vein, extrahepatic portal vein & intrahepatic portal vein
Pathology
- defects in C4orf54 may cause obliterative portal venopathy