Features include always present findings: Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alkaline phosphatase concentration, and Elevated gamma-glutamyltransferase level and others; and very common findings: Liver scarring (fibrosis) (hepatic fibrosis) and Bile duct proliferation. 19 total HPO annotations.

KIF12 encodes kinesin family member 12 (646 aa). Involved in the negative regulation of fatty acid biosynthesis, probably acting as an adapter that allows ubiquitination of acetyl-CoA carboxylase 1 (ACACA) by E3 ubiquitin-protein ligase COP1, and promotes ACACA degradation. Highest expression in Kidney Medulla (243.8 TPM) and Kidney Cortex (166.0 TPM).

Cholestasis, progressive familial intrahepatic, 8 is associated with mutations in the KIF12 gene on chromosome 9.

KIF12 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for KIF12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cholestasis, progressive familial intrahepatic, 8 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 2 very common features, 7 common features.

No clinical trials have been registered for cholestasis, progressive familial intrahepatic, 8.

28 publications have been identified in PubMed for cholestasis, progressive familial intrahepatic, 8. Research spans Case Report / Case Series (39%), Review / Meta-Analysis (18%), and Clinical Trial Publication (14%).