Description
Product Characteristics: DAX-1 (DSS-AHC critical region on the X chromosome protein 1, NR0B1, Nuclear receptor subfamily 0 group B member 1) is an orphan nuclear receptor and a component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. DAX-1 / NR0B1 inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. It may also have a role in embryonic development and in the maintenance of embryonic stem cell pluripotency as it up-regulates Oct-4 expression ES cells. Defects in DAX-1 are a cause of dosage-sensitive sex reversal (DSSR) and X-linked adrenal hypoplasia congenital (XL-AHC). DSSR results from a duplication of the region of the X-chromosome containing DAX-1, resulting in males with two copies of DAX-1, which inhibits normal testis formation, and thus XY individuals develop as females. XL-AHC is a developmental disorder of the adrenal gland, characterized by a structural disorganization of the glands. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. HHG is a condition resulting from or characterized by abnormally decreased gonadal function, with retardation of growth and sexual development.
Target Information: 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]