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CYP7B1 - cytochrome P450 family 7 subfamily B member 1
- Synonym(s) :
- Previous symbols and names : SPG5A, cytochrome P450, family 7, subfamily B, polypeptide 1, cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1, spastic paraplegia 5A (autosomal recessive)
- Type : gene with protein product
- Chromosomal location : 8q12.3
- OMIM: 603711
- HGNC: 2652
- UniProtKB: O75881
- Genatlas: CYP7B1
- GenCC: CYP7B1
- Ensembl: ENSG00000172817
- IUPHAR-DB: 1355
- Reactome: O75881
- LOVD: CYP7B1
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive spastic paraplegia type 5A
ORPHA:100986 
- Disease-causing germline mutation(s) in Congenital bile acid synthesis defect type 3
ORPHA:79302
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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