cytochrome P450 family 7 subfamily B member 1
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Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalChildhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalCholestasis
BIALLELIC, autosomal or pseudoautosomalHereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalNeonatal cholestasis
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal+5 more panels — install the extension to see the full list inline on any page.
hereditary spastic paraplegia 5A
Autosomal recessive spastic paraplegia type 5A
congenital bile acid synthesis defect 3
hereditary spastic paraplegia
Congenital bile acid synthesis defect type 3
Spastic paraplegia
hereditary disease
CHD7-related CHARGE syndrome
major depressive disorder
CYP7B1-related disorder of oxysterol accumulation
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Cytochrome P450 7B1
A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:10588945, PubMed:24491228). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position (PubMed:10588945, PubMed:24491228). Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3-hydroxy steroid 7-alpha hydroxylase (PubMed:24491228). Hydroxylates oxysterols, including 25-hydroxycholesterol and (25R)-cholest-5-ene-3beta,26-diol toward 7-alpha hydroxy derivatives, which may be transported to the liver and converted to bile acids (PubMed:10588945, PubMed:9802883). Via its product 7-alpha,25-dihydroxycholesterol, a ligand for the chemotactic G protein-coupled receptor GPR183/EBI2, regulates B cell migration in germinal centers of lymphoid organs, thus guiding efficient maturation of plasma B cells and overall antigen-specific humoral immune response (By similarity). 7-alpha hydroxylates neurosteroids, including 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone) and pregnenolone, both involved in hippocampus-associated memory and learning (PubMed:24491228). Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives (PubMed:24491228)
Curated MONDO disease pages that list CYP7B1 among their top associated genes.
CYP7B1 · O75881
Mean pLDDT
91.6/ 100
Very high
506 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
