NR5A1
Reproductive System · Sex Determination & Gonadal Differentiation
Why can NR5A1 affect both reproductive and adrenal tissues?
NR5A1 encodes steroidogenic factor 1, a regulator of genes involved in gonadal and adrenal development. Its shared role links these tissues with the production of steroid hormones.
- Common Gene Name
- nuclear receptor subfamily 5 group A member 1
- NCBI Gene ID
- 2516
- Chromosome
- 9
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 (3 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| NR5A1-related sex development disorder | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2026-01-21 |
| 46,XX testicular disorder of sex development | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2015-03 | |
| Swyer syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2015-03 |
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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