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Article

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

European journal of human genetics : EJHG - 1 Dec 2007

Degiorgio Dario, Colombo Carla, Seia Manuela, Porcaro Luigi, Costantino Lucy, Zazzeron Laura, Bordo Domenico, Coviello Domenico A

Abstract excerpt

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal-recessive disorder due to mutations in the ATP-binding cassette, subfamily B, member 4 gene (ABCB4). ABCB4 is the liver-specific membrane transporter of phosphatidylcholine, a major and exclusive component of mammalian bile. The disease is characterized by early onset of cholestasis with high serum gamma-glutamyltranspeptidase activity,...

Read the complete abstract on PubMed

Topics

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Share to ATP Binding Cassette Transporter, Subfamily B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

Share to Codon, Nonsense

Share to Mutagenesis, Insertional

Share to Mutation, Missense

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Source

Identifiers

PMID: 17726488
DOI: 10.1038/sj.ejhg.5201908

Genes

ABCB4
ABCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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