DAX1
DAX1
A gene (DSS-AHC critical region on the X chromosome, gene 1—formally known, per HUGO nomenclature, as NR0B1) located on chromosome Xp21.3 that encodes a protein containing a DNA-binding domain, which acts as a dominant-negative regulator of transcription mediated by the retinoic acid receptor. DAX1 also acts as an anti-testis gene by antagonising SRY.Molecular pathology
DAX1 mutations cause both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.