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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CYP8B1
cytochrome P450 family 8 subfamily B member 1
Chromosome 3 · 3p22.1
NCBI Gene: 1582Ensembl: ENSG00000180432.6HGNC: HGNC:2653UniProt: Q9UNU6
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
bile acid biosynthetic processsterol 12-alpha-hydroxylase activitypositive regulation of intestinal cholesterol absorptionendoplasmic reticulum membraneneurodegenerative diseaseIntrahepatic cholestasis of pregnancycholestasis, intrahepatic, of pregnancy 3liver disease
✦AI Summary

CYP8B1 (cytochrome P450 family 8 subfamily B member 1) is a microsomal enzyme that catalyzes the 12α-hydroxylation of bile acid intermediates, playing a crucial role in primary bile acid biosynthesis and homeostasis 1. The enzyme specifically converts 7α-hydroxy-4-cholesten-3-one to facilitate cholic acid synthesis, controlling the balance between cholic acid and chenodeoxycholic acid production 2. CYP8B1 expression is regulated by multiple pathways, including PPARα signaling, FXR-mediated mechanisms, and microRNA networks, with reduced expression favoring hydrophilic bile acid composition 345. The enzyme's activity is critical for cholesterol homeostasis and dietary lipid absorption, with dysregulation contributing to cholestatic liver diseases 6. In hepatocellular carcinoma, CYP8B1 expression is significantly decreased compared to normal tissue, and reduced expression correlates with poor prognosis 7. Overexpression of CYP8B1 in cancer cells inhibits proliferation and promotes apoptosis through modulation of cell cycle regulators and apoptotic pathways 7. The enzyme represents both a therapeutic target for metabolic disorders and a potential prognostic biomarker in liver cancer.

Sources cited
1
CYP8B1 facilitates cholesterol conversion to cholic acid and is upregulated by indole-3-lactic acid
PMID: 39888270
2
Reduced CYP8B1 expression favors hydrophilic bile acid synthesis under ATGL inhibition
PMID: 39357546
3
CYP8B1 is downregulated by hepatic FXR-FGF4 signaling in cholestatic conditions
PMID: 39393353
4
CYP8B1 expression is regulated by miR-191-3p/LRH-1 signaling in cholestatic liver injury
PMID: 33746084
5
CYP8B1 is repressed by hepatocyte ATF3 through interaction with hepatocyte nuclear factor 4α
PMID: 33462514
6
CYP8B1 is regulated by PPARα and involved in bile acid homeostasis in cholestatic diseases
PMID: 25678132
7
CYP8B1 expression is decreased in hepatocellular carcinoma and its overexpression inhibits cell proliferation
PMID: 40576120
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
Intrahepatic cholestasis of pregnancyOpen Targets
0.25Weak
cholestasis, intrahepatic, of pregnancy 3Open Targets
0.20Weak
liver diseaseOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.06Suggestive
Congenital bile acid synthesis defect type 1Open Targets
0.06Suggestive
Congenital bile acid synthesis defect type 2Open Targets
0.05Suggestive
Congenital bile acid synthesis defect type 3Open Targets
0.05Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.05Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.05Suggestive
gallbladder disease 1Open Targets
0.05Suggestive
congenital bile acid synthesis defect 1Open Targets
0.05Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.05Suggestive
Hyperlipoproteinemia type 1Open Targets
0.05Suggestive
congenital bile acid synthesis defect 2Open Targets
0.05Suggestive
colorectal cancerOpen Targets
0.05Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.04Suggestive
glycogen storage disease VIOpen Targets
0.04Suggestive
congenital bile acid synthesis defect 3Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NR5A2Protein interaction100%HSD3B7Protein interaction100%HNF4AProtein interaction99%SQLEProtein interaction99%CH25HProtein interaction97%BAATProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Ovary
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CYP8B1NR5A2HSD3B7HNF4ASQLECH25HBAAT
PROTEIN STRUCTURE
Preparing viewer…
PDB7LYX · 2.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.86LoF Tolerant
pLIⓘ
0.09Tolerant
Observed/Expected LoF0.94 [0.35–1.86]
RankingsWhere CYP8B1 stands among ~20K protein-coding genes
  • #13,882of 20,598
    Most Researched21
  • #16,972of 17,882
    Most Constrained (LOEUF)1.86
Genes detectedCYP8B1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Quercetin-Driven Akkermansia Muciniphila Alleviates Obesity by Modulating Bile Acid Metabolism via an ILA/m
PMID: 39888270
Adv Sci (Weinh) · 2025
1.00
2
Inhibition of ATGL alleviates MASH via impaired PPARα signalling that favours hydrophilic bile acid composition in mice.
PMID: 39357546
J Hepatol · 2025
0.90
3
Hepatic FXR-FGF4 is required for bile acid homeostasis via an FGFR4-LRH-1 signal node under cholestatic stress.
PMID: 39393353
Cell Metab · 2025
0.80
4
Limb expression 1-like (LIX1L) protein promotes cholestatic liver injury by regulating bile acid metabolism.
PMID: 33746084
J Hepatol · 2021
0.70
5
Hepatocyte ATF3 protects against atherosclerosis by regulating HDL and bile acid metabolism.
PMID: 33462514
Nat Metab · 2021
0.60