CYP27B1
Renal System · Renal Phosphate & Calcium Handling
Why must vitamin D be activated before it can do its work?
CYP27B1 makes an enzyme that carries out a key activation step in vitamin-D metabolism. The active hormone then helps regulate calcium and phosphate, so a pathway defect is different from simply having low dietary intake.
- Common Gene Name
- cytochrome P450 family 27 subfamily B member 1
- NCBI Gene ID
- 1594
- Chromosome
- 12
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (2 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| vitamin D-dependent rickets, type 1A | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2025-06-04 |
| Vitamin D-dependent rickets | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2026-03 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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