|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for NR0B1(NM_000475.4) Search again
Product ID:
HQP004563
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2
Gene Description:
nuclear receptor subfamily 0 group B member 1
Target Gene Accession:
NM_000475.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
|
|
| A | B |
|
Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
|
Summary
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.
Gene References into function
- 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]
- Identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X).
- potently inhibits ligand-dependent transcriptional activation as well as the interaction between the N- and C-terminal activation domains of the androgen receptor
- X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein
- adrenal hypoplasia congenita and multiple pituitary hormone deficiency without mutations in the DAX1 or SF1 genes
- WT1 and this protein inhibit aromatase P450 expression in human endometrial and endometriotic stromal cells
- An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation (Q37X) leading to a mild form of X-linked adrenal hypoplasia congenita.
- missense mutations and deletions in dax1 protein is associated with persistent hypertriglyceridemia
- 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
- SMRT and DAX-1 repress agonist-dependent activity of both androgen and progesterone receptors
- DAX-1 and COUP-TFII may play a role in the modulation of Ad4BP/SF-1-dependent transcription of steroidogenic enzymes in different cell types and follicular stages in normal cycling human ovaries.
- DAX-1alpha can bind to steroidogenic factor 1 and to DNA but is unable to repress steroidogenic factor 1-mediated transcriptional activation of the reporter gene and acts as an antagonist of DAX-1 under certain conditions
- DAX-1 might modify the AR & ER-beta intracellular location. Because a direct positive relation between the expression of these three receptors was found, the presence of DAX-1 in neoplastic cells might indicate a possible failure of endocrine therapies.
- It remains probable that this unusual patient has either a DAX1 or SF1 mutation defect. A Wnt-4 defect was not evaluated.
- determined the presence of an alternatively spliced form of NR0B1, NR0B1A; NR0B1A is encoded by NR0B1 exon 1 & exon 2A located within the 3385 nt intron between NR0B1 exons 1 and 2; detected expression of NR0B1A in adrenal gland, testis, ovary & pancreas
- 13 novel mutations in the DAX1 protein associated with adrenal hypoplasia gongenita are described.
- DAX-1 is a major repressor of ACTH-R gene expression in vitro and in vivo.
- *mutated in adrenal gland and reproduction disorderse (REVIEW)
- The high levels of DAX1 found in Ewing tumors and its potent transcriptional repressor activity suggest that the oncogenic effect of EWS/FLI1 may be mediated, at least in part, by the up-regulation of DAX1 expression.
- DAX-1 may inhibit the proliferation and progression of endometrial carcinoma through inhibition of estrogenic actions, possibly by interacting with estrogen receptors present in carcinoma cells, rather than regulating in situ steroidogenesis
- Somatic abnormalities in DAX1 are absent or uncommon in patients with idiopathic nonobstructive azoospermia
- Three known and two novel mutations were detected in the DAX1 coding sequence in X-linked adrenal hypoplasia congenita patients
- nuclear receptor DAX1 mutations are a relatively frequent cause of adrenal failure in this group of boys
- DAX1 and small heterodimer partner (SHP) form homodimers individually, as well as DAX1-SHP heterodimers suggesting the possibility of novel functions independent of their coregulator roles.
- DAX-1 plays a critical role in spermatogenesis in the human testis
- The gene that was most reproducibly up-regulated by EWS/FLI was NR0B1.
- Novel features of this family include a novel DAX1 mutation, marked variability in age of presentation, hypertension on 'standard' doses of 9alpha-fludrocortisone and mild testicular enlargement.
- Study describes 3 siblings with adrenal hypoplasia congenita, with different phenotypes; molecular analysis detected a novel mutation, a transition of C to T at position 359 in exon 1 of the DAX1 gene, determining a stop codon.
- The repressive functions of SHP and DAX-1 have been conserved in fish and mammals although with different transcriptional targets and mechanisms.
- novel DAX-1 mutation was detected in two family members with different phenotype: one live infant with adrenal hypoplasia, his mother, and probably his dead brother
- study reported patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by the loss of function mutations of the DAX-1 gene
- DAX-1 acts as a corepressor of PPARgamma and performs a potential function in the regulation of PPARgamma-mediated cellular differentiation.
- DAX-1 directly modulates GR signaling in addition to affecting glucocorticoid hormone levels
- DAX1 is important in the pathogenesis of the Ewing's family of tumors, and is a cell-cycle progression regulator.
- In comparison to DAX-1A, DAX-1 is, by far, the predominant mRNA isoform found in human adrenal glands and gonads.
- Ad4BP/SF-1 and DAX-1 are expressed not only in benign adrenal adenoma but also malignant adrenocortical carcinoma, it is useful to distinguish from other retroperitoneal tumors
- three unrelated cases with variable clinical presentations of congenital adrenal hypoplasia, all with novel mutations in the DAX-1 gene
- structure of the Dax-1:LRH-1 complex provides the molecular mechanism for the function of Dax-1 as a potent transcriptional repressor
- These findings reveal novel functions of SRA and Dax-1 in steroidogenesis and adrenal biology.