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).

Progressive familial intrahepatic cholestasis type 3 is caused by 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.

Biomarker and diagnostic research for progressive familial intrahepatic cholestasis type 3 has been reported in the published literature.

Phenotype severity distribution: 9 always present features, 4 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

No clinical trials have been registered for progressive familial intrahepatic cholestasis type 3.

39 publications have been identified in PubMed for progressive familial intrahepatic cholestasis type 3. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (18%).

Recent Publications

• Thunga C (2026). [PMID: 41640953](https://pubmed.ncbi.nlm.nih.gov/41640953/). *World journal of hepatology*. [Epidemiology / Natural History]

• Banet M (2026). [PMID: 41735377](https://pubmed.ncbi.nlm.nih.gov/41735377/). *Scientific reports*. [Basic Science / Preclinical]

• Gadour E (2026). [PMID: 41566726](https://pubmed.ncbi.nlm.nih.gov/41566726/). *Advances in clinical and experimental medicine : official organ Wroclaw Medical University*. [Diagnostic / Biomarker]

• Cai B (2026). [PMID: 41598351](https://pubmed.ncbi.nlm.nih.gov/41598351/). *Journal of clinical medicine*. [Case Report / Case Series]

• Ke L (2026). [PMID: 41962761](https://pubmed.ncbi.nlm.nih.gov/41962761/). *Cell Mol Gastroenterol Hepatol*. [Basic Science / Preclinical]

• Zhao D (2026). [PMID: 41659993](https://pubmed.ncbi.nlm.nih.gov/41659993/). *Journal of clinical and translational hepatology*. [Other]

• Heinrich S (2026). [PMID: 41993931](https://pubmed.ncbi.nlm.nih.gov/41993931/). *Front Genet*. [Basic Science / Preclinical]

• Gürcan Kaya N (2025). [PMID: 40302296](https://pubmed.ncbi.nlm.nih.gov/40302296/). *Journal of paediatrics and child health*. [Gene Therapy / Novel Therapeutics]

• Madry C (2025). [PMID: 41274965](https://pubmed.ncbi.nlm.nih.gov/41274965/). *Scientific reports*. [Gene Therapy / Novel Therapeutics]

• Wu K (2025). [PMID: 40505422](https://pubmed.ncbi.nlm.nih.gov/40505422/). *Stem cell research*. [Case Report / Case Series]