Gene Symbol | NR5A1 |
Entrez Gene ID | 2516 |
Full Name | nuclear receptor subfamily 5 group A member 1 |
Synonyms | AD4BP,ELP,FTZ1,FTZF1,POF7,SF-1,SF1,SPGF8,SRXX4,SRXY3,hSF-1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | 46XY sex reversal 3, 612965 (3); Premature ovarian failure 7, 612964 (3); Adrenocortical insufficiency, 612964 (3); 46, XX sex reversal 4, 617480 (3); Spermatogenic failure 8, 613957 (3) |