Features include always present findings: Cholestasis, Cholelithiasis, Cholesterol gallstones, and Portal inflammation and others; and sometimes findings: Jaundice. 12 total HPO annotations.

ABCB4 encodes ATP binding cassette subfamily B member 4 (1,286 aa). Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Highest expression in Liver (28.7 TPM) and Adrenal Gland (6.1 TPM).

Gallbladder disease 1 is associated with mutations in the ABCB4 gene on chromosome 7.

The ABCB4 protein participates in ABCB4 V571Dfs*16 and Expression of ABCB4 pathways.

ABCB4 is classified as a druggable target (Abc Transporter, Druggable Genome, Enzyme, and Transporter categories) with score 0.9.

114 pathogenic variants reported in ABCB4 in ClinVar, including hotspot variants 909965 and NP_000434.1:p.Asn510Ser (2-star review).

Genetic testing for ABCB4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features.

Estimated prevalence: Unknown (Unknown prevalence).

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

16 publications have been identified in PubMed for gallbladder disease 1. Research spans Epidemiology / Natural History (25%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (19%).