NR0B1

NR0B1

A gene (popularly known as DAX1) 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. NR0B1 also acts as an anti-testis gene by antagonising SRY.
 
Molecular pathology
NR0B1 mutations cause both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
References in periodicals archive ?
Genes frequently involved in complex GKD include DMD, variations in which cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), and NR0B1 (DAX1), which is responsible for adrenal hypoplasia congenita (AHC) (2, 3).
The orientation of the included genes is: Xpter-IL1RAPL1 (5' [right arrow] 3') NR0B1 (3' [left arrow] 5') GK (5' [right arrow] 3') DMD (3' [leaf arrow] 5')-cent.
Primers were designed to flank the termination codon of the IL1RAPL1 coding sequence and junction, the start codon of the NR0B1 gene and junction, the GK promoter region, and the termination codon within DMD exon 79 and the accompanying 3' junction with the untranslated region (Table 1, Fig.
Complex GKD is a rare disorder but one that is important to recognize because of the potential for life-threatening Addisonian crises in patients whose deletions extend into the NR0B1 gene.
The PCR assay that we designed maps the gene deletion to the 4 loci most commonly associated with complex GKD (IL1RAPL1, NR0B1, GK, and DMD).