Product Details

Uniprot No.

Target Names

NR0B1

Alternative Names

Nuclear receptor subfamily 0 group B member 1 (DSS-AHC critical region on the X chromosome protein 1) (Nuclear receptor DAX-1), NR0B1, AHC DAX1

Species Reactivity

Human

Immunogen

A synthesized peptide from human NR0B1 protein

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

Clonality

Monoclonal

Isotype

Rabbit IgG

Clone No.

24B5

Purification Method

Affinity-chromatography

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Rabbit IgG in 10mM phosphate buffered saline , pH 7.4, 150mM sodium chloride, 0.05% BSA, 0.02% sodium azide and 50% glycerol.

Form

Liquid

Tested Applications

ELISA, WB, IHC, FC

Recommended Dilution

Application	Recommended Dilution
WB	1:500-1:2000
IHC	1:50-1:200
FC	1:50-1:200

Protocols

ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
Flow Cytometry (FC) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Description

NR0B1, also known as DAX-1, functions as an atypical orphan nuclear receptor that plays critical roles in adrenal and gonadal development, steroidogenesis, and reproductive function. This transcriptional regulator is particularly significant in research exploring adrenal hypoplasia congenita, hypogonadotropic hypogonadism, and sex determination pathways, making it a compelling target for investigators studying endocrine development and related disorders.

This recombinant monoclonal antibody, generated against a synthetic peptide derived from human NR0B1, offers the reproducibility and consistency that demanding experimental workflows require. Because the antibody sequence is defined and production occurs in a controlled recombinant system, researchers can expect reliable performance across experiments and between lots, eliminating the variability often encountered with traditional hybridoma-derived antibodies.

Validation studies demonstrate robust performance across multiple applications. Western blot analysis of A549 whole cell lysate reveals a clean band at the predicted molecular weight of 52 kDa, confirming target specificity at dilutions between 1:500 and 1:2000. Immunohistochemical staining in paraffin-embedded human testis tissue shows clear signal using citrate buffer antigen retrieval, consistent with NR0B1's established expression in gonadal tissue. Flow cytometry analysis using HepG2 cells further confirms intracellular detection capability, with distinct separation between test and control populations observed in fixed and permeabilized cells.

The antibody's versatility across western blotting, immunohistochemistry, and flow cytometry provides researchers with flexibility to examine NR0B1 expression and localization using complementary approaches. This makes it well-suited for studies investigating steroid hormone biosynthesis, reproductive development, and the molecular mechanisms underlying NR0B1-associated clinical conditions.

Usage

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

Target Background

Function

Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency.

Gene References into Functions

A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism. PMID: 28075027
Based on the level of NR0B1 expression in lung adenocarcinoma cells with different clinical stages, our results indicate that epigenetic modifications promote NR0B1 activation to maintain the self-renewal of cancer cells. PMID: 27281610
Nonsense mutation in the DAX-1 gene is associated with precocious puberty and late-onset hypogonadotropic hypogonadism. PMID: 28284037
These findings suggested that the mutation of NR0B1 in X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism enhanced the function of DAX1 to repress SF-1 activation, while DAX1 is expected to have additional roles in the pathological mechanism. PMID: 27035099
DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis. PMID: 25985323
This novel mutation (p. V385L) of DAX-1 is the first to be identified in association with secretory azoospermia, thereby highlighting the important role of DAX-1 in spermatogenesis. PMID: 26207377
DAX-1 is less specific than Ap2beta, however it is a sensitive marker for translocation positive ARMS and can be helpful in their diagnosis if used in combination with Ap2beta PMID: 26168243
DAX1 mutations were associated with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. PMID: 25968435
Case Report: novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia. PMID: 25079468
DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Review. PMID: 24751136
results suggest a previously unknown DAX-1/beta-Catenin molecular network controlling HCC development PMID: 25171651
Two Taiwanese patients with adrenal hypoplasia congenita were detected to have novel mutations of the DAX1 (NR0B1) gene. PMID: 16355812
Deletion in exon 2 of NR0B1 is associated with late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism. PMID: 25003377
Data suggest that levels of DAX1/NR0B1 in subcapsular zone of adrenal glands (zona glomerulosa) are not prominently different in subjects with primary aldosteronism, subjects with aldosterone-producing adrenocortical adenomas, or normal subjects. PMID: 24531914
Overall, these results indicated that the main mechanism of sex reversal are not associated with mutations in the coding regions of SOX9 and DAX1 or copy number variations of SOX9, which is consistent with results of previous studies. PMID: 24668626
MiR-561 worsens APAP-induced hepatotoxicity via inhibition of DAX-1. PMID: 24104199
Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family. PMID: 23512386
Androgens, through DAX-1, inhibit aromatase expression in breast cancer cell lines. PMID: 23846226
These results indicate the reciprocal relationship between NR0B1 and PPARgamma on the malignant grade of lung adenocarcinoma PMID: 22843091
NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency PMID: 23378245
Loss of NR0B1 gene is associated with adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 PMID: 23824603
We report a novel non-sense p.Gln208X mutation in the amino terminal domain of the DAX-1 gene observed in a large family with three boys presenting with adrenal manifestations at different ages. PMID: 23585174
study identified NR0B1 sequence variants in 4 congenital adrenal hypoplasia/hypogonadal hypogonadism pedigrees; 3 are novel and 2 represent the first NR0B1 variants reported in patients of Arabic ethnic origin PMID: 23018754
DAX-1 as a novel and potent constitutive androstane receptor (CAR) corepressor and suggest that DAX-1 functions as a coordinate hepatic regulator of CAR's biological function. PMID: 22896671
decreases in testosterone and inhibin B levels indicated a progressive loss of testicular function in boys carrying NR0B1 mutations PMID: 22761912
These data suggest that GGAA microsatellite polymorphisms in the NR0B1 gene might influence disease susceptibility and prognosis in Ewing sarcoma in unanticipated ways. PMID: 22749036
A novel DAX1 missense mutation, c.1274G>T (p.Arg425Ile), causing X-linked adrenal hypoplasia congenita, was found in a Congolese family. PMID: 21739173
genetic association study in Swedish subjects: studies to characterize NR0B1 deletions (and contiguous gene deletions) in patients with X-linked congenital adrenal hypoplasia (and their mothers); correlation of genotypes with divergent phenotypes PMID: 22456342
DAX1 gene mutations are associated with primary adrenal insufficiency. PMID: 22768659
Results describe two novel mutations in the human DAX1 gene in patients with X-linked adrenal hypoplasia congenita. PMID: 21270512
Reviews the clinical manifestations associated with DAX1 mutations as well as the evolving information about its function. PMID: 21672607
DAX-1/DAX-1A is expressed in germ cells from spermatogonia to spermatids. The similar mRNA expression of DAX-I and DAX-IA in testicular tissues from cases and controls does not support the involvement of DAX-1 in primary spermatogenic failure. PMID: 21775412
Nonsense and frameshift mutations of the DAX-1 gene partially eliminated the ability of DAX-1 to repress the transcription of steroidogenic acute regulatory protein PMID: 21632081
DAX1 acts as a co-repressor to negatively modulate FXR transactivity. PMID: 21856289
Male children with adrenal cortical hypofunction should be suspected of X-linked AHC with mutations in NR0B1. PMID: 21029627
patient with X-linked congenital adrenal hypoplasia (and associated with hypogonadotropic hypogonadism) was found to have a mutation in NR0B1 [(C1210T) leading to a stop codon in position 404 (Q404X)] [CASE REPORT] PMID: 21227944
In operable node-negative breast cancer, strong DAX-1 expression is associated with excellent survival. PMID: 21378322
This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 mutations. PMID: 21164257
DAX1 mutations influence the hypothalamus-pituitary-gonadal and adrenal axis and lead to adrenal hypoplasia congenita and hypogonadotropic hypogonadism. PMID: 20573681
In X-linked adrenal hypoplasia congenita caused by different molecular defects in NR0B1 gene, the clinical spectrum of the disease is quite variable and precocious sexual development is a prominent feature. PMID: 19508677
DAX-1 acts as a novel corepressor of liver X receptor alpha and inhibits hepatic lipogenesis PMID: 20080977
describe phenotypic spectrum of disorders associated with mutations and reveal how the discovery of naturally occurring mutations is helping to unravel the role in development and disease [review] PMID: 11738790
Identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X). PMID: 11748852
potently inhibits ligand-dependent transcriptional activation as well as the interaction between the N- and C-terminal activation domains of the androgen receptor PMID: 11875111
X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein PMID: 12034880
adrenal hypoplasia congenita and multiple pituitary hormone deficiency without mutations in the DAX1 or SF1 genes PMID: 12083815
WT1 and this protein inhibit aromatase P450 expression in human endometrial and endometriotic stromal cells PMID: 12213901
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation (Q37X) leading to a mild form of X-linked adrenal hypoplasia congenita. PMID: 12519885
missense mutations and deletions in dax1 protein is associated with persistent hypertriglyceridemia PMID: 12636049
modulation of DAX-1 and steroidogenic factor-1 intracellular levels in granulosa cells suggests that these transcription factors could be involved in mitogen-activated protein kinase suppression of steroidogenic acute regulatory protein expression PMID: 12727988

Hide All

Involvement in disease

Adrenal hypoplasia, congenital (AHC); 46,XY sex reversal 2 (SRXY2)

Subcellular Location

Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.

Protein Families

Nuclear hormone receptor family, NR0 subfamily

Database Links

HGNC: 7960

OMIM: 300018

KEGG: hsa:190

STRING: 9606.ENSP00000368253

UniGene: Hs.268490

Message

Product >> Product Name：
Product >> Code：
Name： *
Email： *
Company/Organization：
Phone：
Since emails may get flagged by spam filters occasionally, we recommend leaving your phone number as a precaution. Your information is safe with us.
Question/Comment： *
Your Region： *
I'd like to receive email newsletters from Cusabio

Yes

No
How do you know CUSABIO?

Email

Distributor

Search engine

Advertisement

Others
CAPTCHA verification：
Please enter the characters shown. Click the image to refresh if unclear.

Code	CSB-RA798534A0HU
Size	US$210
	Order now
Image	Western Blot Positive WB detected in: A549 whole cell lysate(30µg) All lanes: NR0B1 antibody at 1:1000 Secondary Goat polyclonal to rabbit IgG at 1/40000 dilution Predicted band size: 52 kDa kDa Observed band size: 52 kDa kDa Exposure time：3min IHC image of CSB-RA798534A0HU diluted at 1:100 and staining in paraffin-embedded human testis tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-rabbit polymer IgG labeled by HRP and visualized using 0.05% DAB. Overlay Peak curve showing HepG2 cells stained with CSB-RA798534A0HU (red line) at 1:100. The cells were fixed in 4% formaldehyde and permeated by 0.2% TritonX-100 for 10min. Then 10% normal goat serum to block non-specific protein-protein interactions followed by the antibody (1ug/110⁶cells) for 45min at 4℃. The secondary antibody used was FITC-conjugated goat anti-rabbit IgG (H+L) at 1/200 dilution for 35min at 4℃.Control antibody (green line) was Rabbit IgG (1ug/110⁶cells) used under the same conditions. Acquisition of >10,000 events was performed.
Have Questions?	Leave a Message or Start an on-line Chat

NR0B1 Recombinant Monoclonal Antibody

Product Details

Related Products

Customer Reviews and Q&A

Target Background