Gene Symbol | NR0B1 |
Entrez Gene ID | 190 |
Full Name | nuclear receptor subfamily 0 group B member 1 |
Synonyms | AHC,AHCH,AHX,DAX-1,DAX1,DSS,GTD,HHG,NROB1,SRXY2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Adrenal hypoplasia, congenital, 300200 (3); 46XY sex reversal 2, dosage-sensitive, 300018 (3) |