NR5A1( Human )

Entrez Gene 2516 Entrez Gene 2516
nuclear receptor subfamily 5 group A member 1

Alias

AD4BP|ELP|FTZ1|FTZF1|POF7|SF-1|SF1|SPGF8|SRXY3|hSF-1

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].

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