DSS-AHC critical region on the X chromosome protein 1 (DAX1) is an orphan nuclear receptor encoded by the nuclear receptor subfamily 0 group B member 1 (NR0B1) gene. DAX1 possesses an atypical DNA binding domain that allows it to form heterodimeric complexes with DNA binding partners and repress transcriptional activity. During development, DAX1 is important for establishment of the hypothalamic-pituitary-adrenal gonadal axis. The receptor is essential for development of several important hormone-producing organs that determine this axis, including the adrenal glands, pituitary, hypothalamus, and the male and female reproductive organs. Research studies suggest that DAX1 plays a role in maintenance of pluripotency in embryonic stem cells. Loss of DAX1 function through deletion or mutation results in adrenal insufficiency and hypogonadotropic hypogonadism, while duplication of the NR0B1 gene on the X-chromosome causes dosage-sensitive sex reversal.
