Friday, 24 January 2014

ATP- binding cassette transporter defects :-

ABCA1- Tangier's disease

ABCB4/ MDR3- Progressive familial intra- hepatic cholestasis type 3

ABCB11/FIC 2- Progressive familial intra hepatic cholestasis type 2 and bening recurrent intra hepatic cholestasis type 2

ABCC2/MRP2- defective in Dubin - Johnson syndrome leading to conjugated hyperbilirubinemia ; sea- green /bluish green liver due to accumlation of polymers of epinephrine in lysosomes

ABCC7/CFTR- defective in cystic fibrosis in bile ductal epithelial cells and not in canalicular membrane ; impaired Ph regulation of cholangiocellular bile secretion- chronic cholestasis - biliary cirrhosis

ABCG5/G8- defective canalicular transport of cholesterol and phytosterols leading to sitosterolemia

ATP7A1- menkes syndrome / kinky hair disease / steely hair syndrome

ATP7BI- Wilson 's disease / hepato- lenticular degeneration

ATP8B1/FIC1- defective aminophospholipid transferase (" flippase") activity leading to Progressive familial intra hepatic cholestasis type 1 and bening recurrent intra hepatic cholestasis type 1.

ABCD1- ATP binding cassette transporter family protein encoded by ALD gene on chromosome  Xq28
Whose mutation results in adrenoleukodystrophy

ABCA12- on chromosome 2 ; lipid transporter responsible for harlequin ichthyosis

ATP 11B - responsible for cisplatin resistance in ovarian carcinoma

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