Title : Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.

Pub. Date : 2015 Jan

PMID : 24594635






3 Functional Relationships(s)
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1 OBJECTIVE: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a potentially lethal autosomal recessive liver disease associated with mutations in ABCB4, the gene encoding the canalicular translocator of phosphatidylcholine MDR3. Phosphatidylcholines ATP binding cassette subfamily B member 4 Homo sapiens
2 ABCB4 missense mutations were phenotyped in vitro by assessing their effects on MDR3 expression, subcellular localisation, and phosphatidylcholine-translocating activity. Phosphatidylcholines ATP binding cassette subfamily B member 4 Homo sapiens
3 Phosphatidylcholine efflux assays indicated that T201M, P479L, S978P and E1118K mutations impaired MDR3 activity to variable degrees. Phosphatidylcholines ATP binding cassette subfamily B member 4 Homo sapiens