Entrez gene ID | | 2516 |
Official gene symbol | | NR5A1 |
Full name | | nuclear receptor subfamily 5, group A, member 1 |
Aliases | | ,AD4BP,ELP,FTZ1,FTZF1,POF7,SF-1,SF1, |
Gene 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] |
Location | | Chromosome: 9 Locus: 9q33 |
Gene position | | 127269699 - 127243515 Map Viewer |
Gene orientation | | minus |
Gene size | | 26185 bp |
Gene sequence |
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OMIM ID | | 184757 |
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