Target:NR0B1
Fields:Cortisol synthesis and secretion
Gene Name:NR0B1 AHC DAX1
Protein Name:Nuclear receptor subfamily 0 group B member 1 (DSS-AHC critical region on the X chromosome protein 1) (Nuclear receptor DAX-1)
Human Gene Id:190
Human Swiss Prot No:P51843
Mouse Swiss Prot No:Q61066
Rat Swiss Prot No:P70503
Immunogen:Synthesized peptide derived from part region of human protein
Specificity:NR0B1 Polyclonal Antibody detects endogenous levels of protein.
Formulation:Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500-2000 ELISA 1:5000-20000
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Observed Band(KD):51kD
Background: This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008],
Function:disease:Defects in NR0B1 are the cause of X-linked adrenal hypoplasia congenital (AHC) [MIM:300200]. AHC is a developmental disorder of the adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. It is characterized by the absence of the permanent zone of the adrenal cortex and by a structural disorganization of the glands. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. HHG is a condition resulting from or characterized by abnormally decreased gonadal function, with retardation of growth and sexual development.,disease:XY individuals with a duplication of part of the short arm of the X chromosome and an intact SRY gene show dosage-sensitive sex reversal (DSS) [MIM:300018]. The single X chromosome in these individuals does not undergo X-chromosome inactivation; therefore, these individuals presumably carry 2 active copies
Subcellular Location:Nucleus . Cytoplasm . Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.
Expression: Lung,