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ABCB4

—ATP Binding Cassette Subfamily B Member 4

Chromosome: 7

Location: 7:87400393-87480435

OMIM: 171060

Ensembl: ENSG00000005471

Official·OMIM:171060 Official·ENSG00000005471

Encodes phosphatidylcholine flippase. Mutations cause progressive familial intrahepatic cholestasis.

Treatment Roadmap — ABCB4

Preclinical

Phase 1

Phase 2

1 trial

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Progressive Familial Intrahepatic Cholestasis Type 3

Autosomal RecessivePrevalence: 1/100000hepatic

Official·OMIM:602347 Official·ORPHA284403

Summary

Clinical Trial

Approved Therapy

Registered Variant