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ATP8B1

—ATPase Phospholipid Transporting 8B1

Chromosome: 18

Location: 18:57646426-57803560

OMIM: 602397

Ensembl: ENSG00000081923

Official·OMIM:602397 Official·ENSG00000081923

Encodes phospholipid translocase. Mutations cause PFIC type 1 (Byler disease).

Treatment Roadmap — ATP8B1

Preclinical

Phase 1

Phase 2

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 1

Autosomal RecessivePrevalence: 1/100000hepatic

Official·OMIM:211600 Official·ORPHA284403

Summary

Clinical Trial

Approved Therapy

Registered Variant