CYP7B1 cytochrome P450 family 7 subfamily B member 1
Gene ID: 9420, updated on 3-Apr-2024Gene type: protein coding
Also known as: CP7B; CBAS3; SPG5A
- See all available tests in GTR for this gene
- Go to complete Gene record for CYP7B1
- Go to Variation Viewer for CYP7B1 variants
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital bile acid synthesis defect 3 | See labs |
| Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. GeneReviews: Not available | |
| Genome-wide association study of retinopathy in individuals without diabetes. GeneReviews: Not available | |
| Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. GeneReviews: Not available | |
| Hereditary spastic paraplegia 5A | See labs |
Genomic context
- Location:
- 8q12.3
- Sequence:
- Chromosome: 8; NC_000008.11 (64586575..64798737, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CYP7B1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CYP7B1 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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