Title : Heterozygous ABCB4 mutations in children with cholestatic liver disease.

Pub. Date : 2016 Feb

PMID : 26153658






3 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 BACKGROUND & AIMS: Monoallelic defects in ABCB4, which encodes the canalicular floppase for phosphatidylcholine MDR3, have been encountered in association with a variety of hepatobiliary disorders, particularly in adult subjects. Phosphatidylcholines ATP binding cassette subfamily B member 4 Homo sapiens
2 BACKGROUND & AIMS: Monoallelic defects in ABCB4, which encodes the canalicular floppase for phosphatidylcholine MDR3, have been encountered in association with a variety of hepatobiliary disorders, particularly in adult subjects. Phosphatidylcholines ATP binding cassette subfamily B member 4 Homo sapiens
3 Phosphatidylcholine efflux activity was decreased to 56-18% of reference levels for MDR3 mutants T175A, A250T and S320F. Phosphatidylcholines ATP binding cassette subfamily B member 4 Homo sapiens