DAX-1

DAX-1

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

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.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.