NR5A1 nuclear receptor subfamily 5 group A member 1
Gene ID: 2516, updated on 2-Nov-2024Gene type: protein coding
Also known as: ELP; SF1; FTZ1; POF7; SF-1; AD4BP; FTZF1; SPGF8; SRXX4; SRXY3; hSF-1
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- Go to complete Gene record for NR5A1
- Go to Variation Viewer for NR5A1 variants
Summary
The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 46,XX sex reversal 4 MedGen: C4479552OMIM: 617480GeneReviews: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development | not available |
| 46,XY sex reversal 3 | not available |
| Premature ovarian failure 7 | not available |
| Spermatogenic failure 8 | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-24) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-02-24) ClinGen Genome Curation Page |
Genomic context
- Location:
- 9q33.3
- Sequence:
- Chromosome: 9; NC_000009.12 (124481236..124507399, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NR5A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NR5A1 database
- 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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