Orphan nuclear receptor that participates in adrenal and hypothalamic organogenesis. Defective DAX-1 has been associated with X-linked adrenal insufficiency and hypogonadotropic hypogonadism.
Farlex Partner Medical Dictionary © Farlex 2012
DAX1A 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.
DAX1 mutations cause both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.