MRP2 transpoer defect leads to development of?
MRP2 defect: Multidrug resistance-associated protein 2 (MRP2), an ATP-dependent canalicular membrane transpoer. It is defective in Dubin Johnson syndrome. This protein is encoded by gene known as ABCC2 Gene which is mutated. Dubin Johnson syndrome- It is an autosomal recessive disorder occurs due to defect in MRP-2 protein. kernicterus is absent , with liver biopsy showing black pigmentation. Mild jaundice is seen with normal bile acids level.
Menke's disease
Dubin Johnson syndrome
Familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis
Hereditary Hyperbilirubinemia & Jaundice