(2) There is no clear evidence for a genotype-phenotype correlation between a mutation in DAX-1 (NR0B1) and its structural consequence and the clinical phenotype.
A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
Most common is DAX1 deficiency which is due to genetic defects in NR0B1, located on chromosome Xp21.2.
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Finally, recent evidence suggests that PPAR[gamma] is able to induce apoptosis in lung cancer, although it can be inhibited by NR0B1, an orphan nuclear receptor whose knockdown reduces tumorigenic and antiapoptotic potential .
Minami et al., "Inhibitory effect of PPAR[gamma] on NR0B1 in tumorigenesis of lung adenocarcinoma," International Journal of Oncology, vol.
Nevertheless, ACBD3 takes the central place of an interaction network that composed of multiple genes involving steroid and cholesterol synthesis, including STAR, SCP2, NR0B1
, acyl coenzyme-related ACBD1 and BACH, BLZF1, lipid degradation protein (AZGP1, alpha-2-glycoprotein 1, zinc-binding), and several p24 family members .
AHC manifests itself mainly in early infancy or in childhood and is caused by deletions or point mutations in the NR0B1
(DAX1) (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) gene (OMIM*300473) (Figures 1(a)-1(c)) .
The genes surrounding the GK gene, from telomere to centromere, are Xpter-interleukin 1 receptor accessory protein-like 1 (IL1RAPL1); nuclear receptor subfamily 0, group B, member 1 (NR0B1
); GK, dystropin (DMD); and ornithine carbamoyltransferase (OTC)-cent.
is an orphan member of the nuclear receptor superfamily.
The deletion included part of the DMD gene, the entire NR0B1
gene, and part of the IL1RAPL1 gene (Figure 4).
), a close partner of SF-1, acts as an adaptor that recruits other factors, such as the nuclear receptor corepressors to SF-1.