CYP27B1 cytochrome P450 family 27 subfamily B member 1
Gene ID: 1594, updated on 19-Sep-2024Gene type: protein coding
Also known as: VDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for CYP27B1
- Go to Variation Viewer for CYP27B1 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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. GeneReviews: Not available | |
| Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. GeneReviews: Not available | |
| Vitamin D-dependent rickets, type 1A | See labs |
Genomic context
- Location:
- 12q14.1
- Sequence:
- Chromosome: 12; NC_000012.12 (57762334..57767078, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CYP27B1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CYP27B1 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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