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nuclear hormone receptor
nuclear hormone receptor[¦nü·klē·ər ′hȯr‚mōn ri‚sep·tər] (cell and molecular biology) Any of a superfamily of proteins that directly regulate transcription in response to hormones and other ligands. nuclear hormone receptor
nuclear hormone receptormember of large family of intracellular molecules that act as ligand-activated transcription factors; all steroid and thyroid hormones and retinoic acid exert their effects through nuclear receptors. Member molecules that have no known ligand have been called orphan nuclear receptor.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. |