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.
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Protein Aliases: DAX 1; DSS-AHC critical region on the X chromosome protein 1; nuclear hormone receptor; Nuclear receptor DAX-1; Nuclear receptor subfamily 0 group B member 1; nuclear receptor subfamily 0, group B, member 1; R0B1
Gene Aliases: AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG; NR0B1; NROB1; SRXY2
UniProt ID: (Human) P51843
Entrez Gene ID: (Human) 190