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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CYP7B1
cytochrome P450 family 7 subfamily B member 1
Chromosome 8 Β· 8q12.3
NCBI Gene: 9420Ensembl: ENSG00000172817.5HGNC: HGNC:2652UniProt: O75881
68PubMed Papers
22Diseases
0Drugs
82Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingbile acid biosynthetic processsteroid hydroxylase activityB cell chemotaxishereditary spastic paraplegia 5AAutosomal recessive spastic paraplegia type 5Acongenital bile acid synthesis defect 3hereditary spastic paraplegia
✦AI Summary

CYP7B1 is a cytochrome P450 monooxygenase that catalyzes 7-alpha hydroxylation of oxysterols and steroids, using molecular oxygen with electrons from NADPH via cytochrome P450 reductase 1. The enzyme preferentially hydroxylates steroid substrates at the 7-alpha position, particularly those with a 3-hydroxy group, and hydroxylates oxysterols including 25-hydroxycholesterol toward 7-alpha hydroxy derivatives that facilitate conversion to bile acids 1. CYP7B1 is expressed in liver, brain, reproductive tract, and immune tissues, where it regulates distinct physiological processes 2. Via its product 7-alpha,25-dihydroxycholesterol, a ligand for GPR183, CYP7B1 regulates immune cell migration and B cell maturation 3. The enzyme also metabolizes neurosteroids like dehydroepiandrosterone and pregnenolone involved in hippocampal memory and learning 4. Loss-of-function mutations cause congenital bile acid synthesis defect 3 (BASD3), characterized by neonatal cholestasis and hepatomegaly, treatable with chenodeoxycholic acid 5, and spastic paraplegia type 5, a progressive neuropathy 2. Recent studies demonstrate CYP7B1 deficiency paradoxically suppresses neuroinflammation in multiple sclerosis models and reduces macrophage infiltration during viral infections 63.

Sources cited
1
CYP7B1 catalyzes 7-alpha hydroxylation of oxysterols and steroids using NADPH-dependent monooxygenase mechanism
PMID: 10588945
2
CYP7B1 hydroxylates neurosteroids including DHEA and pregnenolone involved in memory and learning
PMID: 24491228
3
CYP7B1 is expressed in liver, reproductive tract, and brain; loss of function causes spastic paraplegia type 5 and liver disease
PMID: 19687010
4
CYP7B1 produces 7Ξ±,25-dihydroxycholesterol, a GPR183 ligand that drives macrophage infiltration in viral respiratory infections
PMID: 36396144
5
Loss-of-function CYP7B1 mutations cause congenital bile acid synthesis defect 3 with neonatal cholestasis treatable by chenodeoxycholic acid
PMID: 39192447
6
CYP7B1 deficiency suppresses myeloid cell activation and neuroinflammation in experimental autoimmune encephalomyelitis
PMID: 39262855
Disease Associationsβ“˜22
hereditary spastic paraplegia 5AOpen Targets
0.81Strong
Autosomal recessive spastic paraplegia type 5AOpen Targets
0.79Strong
congenital bile acid synthesis defect 3Open Targets
0.73Strong
hereditary spastic paraplegiaOpen Targets
0.65Moderate
Congenital bile acid synthesis defect type 3Open Targets
0.63Moderate
Spastic paraplegiaOpen Targets
0.56Moderate
genetic disorderOpen Targets
0.49Moderate
major depressive disorderOpen Targets
0.39Weak
CYP7B1-related disorder of oxysterol accumulationOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
spastic ataxiaOpen Targets
0.34Weak
multiple sclerosisOpen Targets
0.33Weak
mouth neoplasmOpen Targets
0.32Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
schizophreniaOpen Targets
0.30Weak
health study participationOpen Targets
0.29Weak
benign digestive system neoplasmOpen Targets
0.28Weak
anorexia nervosaOpen Targets
0.27Weak
obesityOpen Targets
0.24Weak
depressive disorderOpen Targets
0.24Weak
Congenital bile acid synthesis defect 3UniProt
Spastic paraplegia 5A, autosomal recessiveUniProt
Pathogenic Variants82
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)Pathogenic
Hereditary spastic paraplegia 5A|Spastic paraplegia|not provided|Hereditary spastic paraplegia|CYP7B1-related disorder|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3
β˜…β˜…β˜†β˜†2026β†’ Residue 417
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)Pathogenic
not provided|Hereditary spastic paraplegia 5A|Spastic paraplegia
β˜…β˜…β˜†β˜†2026β†’ Residue 417
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)Pathogenic
Hereditary spastic paraplegia 5A|Spastic paraplegia|not provided|Hereditary spastic paraplegia|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3|CYP7B1-related disorder|CHD7-related CHARGE syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 486
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)Pathogenic
Hereditary spastic paraplegia 5A|not provided|Hereditary spastic paraplegia|Spastic paraplegia|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3
β˜…β˜…β˜†β˜†2026β†’ Residue 275
NM_004820.5(CYP7B1):c.259+2T>CPathogenic
Hereditary spastic paraplegia 5A|Spastic paraplegia|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A
β˜…β˜…β˜†β˜†2026
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)Pathogenic
Hereditary spastic paraplegia 5A|Congenital bile acid synthesis defect 3|Spastic paraplegia
β˜…β˜…β˜†β˜†2025β†’ Residue 388
NM_004820.5(CYP7B1):c.392dup (p.Asn131fs)Pathogenic
Spastic paraplegia|not provided|Hereditary spastic paraplegia
β˜…β˜…β˜†β˜†2025β†’ Residue 131
NM_004820.5(CYP7B1):c.1254del (p.Phe418fs)Pathogenic
Spastic paraplegia|CHD7-related CHARGE syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 418
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)Pathogenic
Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia|Spastic paraplegia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 363
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)Pathogenic
Spastic paraplegia|Inborn genetic diseases|not provided|Congenital bile acid synthesis defect 3|Hereditary spastic paraplegia|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia 5A
β˜…β˜…β˜†β˜†2025β†’ Residue 112
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)Pathogenic
Hereditary spastic paraplegia 5A|Spastic paraplegia|not provided|CYP7B1-related disorder|Hereditary spastic paraplegia
β˜…β˜…β˜†β˜†2025β†’ Residue 297
NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 321
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)Pathogenic
not provided|Hereditary spastic paraplegia 5A|Spastic paraplegia
β˜…β˜…β˜†β˜†2024β†’ Residue 452
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 217
NM_004820.5(CYP7B1):c.525G>A (p.Trp175Ter)Pathogenic
Spastic paraplegia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 175
NM_004820.5(CYP7B1):c.321_324del (p.Lys107fs)Pathogenic
Spastic paraplegia|not provided|Inborn genetic diseases|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3
β˜…β˜…β˜†β˜†2024β†’ Residue 107
NM_004820.5(CYP7B1):c.650T>A (p.Leu217Ter)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3
β˜…β˜…β˜†β˜†2024β†’ Residue 217
NM_004820.5(CYP7B1):c.314dup (p.Asn105fs)Pathogenic
Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia|Spastic paraplegia
β˜…β˜…β˜†β˜†2024β†’ Residue 105
NM_004820.5(CYP7B1):c.1233+1G>APathogenic
Spastic paraplegia|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A
β˜…β˜…β˜†β˜†2024
NM_004820.5(CYP7B1):c.187C>T (p.Arg63Ter)Pathogenic
not provided|Spastic paraplegia|Hereditary spastic paraplegia 5A|Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A|CYP7B1-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 63
View on ClinVar β†—
Related Genes
NR1H4Protein interaction99%STSProtein interaction93%CYP11A1Protein interaction93%CYP17A1Protein interaction93%HSD3B1Protein interaction93%HSD3B2Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Heart
87%
Brain
86%
Lung
55%
Ovary
30%
Bone Marrow
13%
Gene Interaction Network
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CYP7B1NR1H4STSCYP11A1CYP17A1HSD3B1HSD3B2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75881
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.47–0.89]
RankingsWhere CYP7B1 stands among ~20K protein-coding genes
  • #6,894of 20,598
    Most Researched68
  • #911of 5,498
    Most Pathogenic Variants82 Β· top quartile
  • #7,959of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedCYP7B1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
GPR183 antagonism reduces macrophage infiltration in influenza and SARS-CoV-2 infection.
PMID: 36396144
Eur Respir J Β· 2023
1.00
2
CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.
PMID: 19687010
J Biol Chem Β· 2009
0.90
3
Bile acid homeostasis in female mice deficient in
PMID: 35024311
Acta Pharm Sin B Β· 2021
0.80
4
CYP7B1 deficiency impairs myeloid cell activation in autoimmune disease of the central nervous system.
PMID: 39262855
PNAS Nexus Β· 2024
0.70
5
Differential expression and modulation of EBI2 and 7Ξ±,25-OHC synthesizing (CH25H, CYP7B1) and degrading (HSD3B7) enzymes in mouse and human brain vascular cells.
PMID: 39999050
PLoS One Β· 2025
0.60