DAX1


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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.
References in periodicals archive ?
A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.
A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.
Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (SOX9).
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene.
Almost two hundred mutations in the NR0B1 (DAX1) gene have been identified to date [2], and the relationship between mutations in the NR0B1 (DAX1) gene and AHC is well documented.
Other pathogenic alterations that affect the NR0B1 (DAX1) gene comprise copy-number variations (CNVs) of different size.
NR0B1 (DAX1) is crucial for the development of the adrenal glands and the hypothalamic-pituitary-gonadal axis; hence its disruption can result in various clinical phenotypes leading to Adrenal Hypoplasia Congenita (AHC).
Hypogonadotropic hypogonadism (HH) is the most frequently observed puberty disorder that is caused by mutations in the NR0B1 (DAX1) gene and is due to impaired gonadotropin synthesis and release.
The aim of this study was to investigate the clinical and molecular background of congenital adrenal hypoplasia in a boy, in whom a NR0B1 (DAX1) mutation was suspected.
Sample Collection, Biochemical Measurements, and Genetic Analysis of the NR0B1 (DAX1) Gene.
Similarly, little evidence of the exercise of market power through strategic withholding is evident in three of the four double auction markets (DA2, DAX1 and DA1).