NR5A1 nuclear receptor subfamily 5 group A member 1

Gene ID: 2516, updated on 27-Nov-2024
Gene type: protein coding
Also known as: ELP; SF1; FTZ1; POF7; SF-1; AD4BP; FTZF1; SPGF8; SRXX4; SRXY3; hSF-1

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	See labs
46,XY sex reversal 3 MedGen: C3489793OMIM: 612965GeneReviews: Not available	See labs
Premature ovarian failure 7 MedGen: C2751825OMIM: 612964GeneReviews: Not available	See labs
Spermatogenic failure 8 MedGen: C3151406OMIM: 613957GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-24) ClinGen Genome Curation PagePubMed Triplosensitivity 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

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
NR5A1 database
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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