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Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1)

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AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG; NROB1; Dosage-Sensitive Sex Reversal,Adrenal Hypoplasia Critical Region,On Chromosome X,Gene 1

Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1)
CCC D966
HGNC 7960
MGI 1352460
RGD 62028
UniProt P51843
DAX1is a protein that lacks the normal DNA-binding domain contained in other nuclear receptors. The encoded protein acts as a dominant-negative regulator of transcription of other nuclear receptors including steroidogenic factor 1. 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.
DAX1 plays an important role in the normal development of several hormone-producing tissues. These tissues include the adrenal glands), the pituitary gland and hypothalamus which are located in the brain and the male and female reproductive structures (the testes and ovaries).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD966Mu01 Recombinant Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD966Mu01 Polyclonal Antibody to Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD966Ra01 Recombinant Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD966Ra01 Polyclonal Antibody to Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1) ELISA Kit Customized Service Offer
  1. "An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita."Nature 372:635-641(1994) [PubMed] [Europe PMC] [Abstract]
  2. "Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism."J. Clin. Endocrinol. Metab. 81:2481-2486(1996) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita."J. Biol. Chem. 275:7662-7667(2000) [PubMed] [Europe PMC] [Abstract]
  5. "LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1."Mol. Cell. Biol. 23:238-249(2003) [PubMed] [Europe PMC] [Abstract]
  6. "NR0B1A: an alternatively spliced form of NR0B1."Mol. Genet. Metab. 83:330-336(2004) [PubMed] [Europe PMC] [Abstract]
  7. "DAX1 origin, function, and novel role."Mol. Genet. Metab. 86:70-83(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers."Mol. Endocrinol. 20:2326-2342(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism."Nature 372:672-676(1994) [PubMed] [Europe PMC] [Abstract]
  10. "X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis."Hum. Genet. 99:83-87(1997) [PubMed] [Europe PMC] [Abstract]
  11. "Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita."J. Clin. Endocrinol. Metab. 82:3835-3841(1997) [PubMed] [Europe PMC] [Abstract]
  12. "Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita."J. Pediatr. 130:485-488(1997) [PubMed] [Europe PMC] [Abstract]
  13. "A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita."Mol. Endocrinol. 11:1950-1960(1997) [PubMed] [Europe PMC] [Abstract]
  14. "DAX1 mutations map to putative structural domains in a deduced three-dimensional model." Am. J. Hum. Genet. 62:855-864(1998) [PubMed] [Europe PMC] [Abstract]
  15. "Dax1 antagonizes Sry action in mammalian sex determination."Nature 391:761-767(1998) [PubMed] [Europe PMC] [Abstract]
  16. "Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia."Am. J. Med. Genet. 84:87-89(1999) [PubMed] [Europe PMC] [Abstract]
  17. "Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism."Clin. Endocrinol. (Oxf.) 50:69-75(1999) [PubMed] [Europe PMC] [Abstract]
  18. "A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism."J. Clin. Invest. 105:321-328(2000) [PubMed] [Europe PMC] [Abstract]
  19. "Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1."J. Pediatr. 137:878-881(2000) [PubMed] [Europe PMC] [Abstract]
  20. "Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA."Mol. Cell. Biol. 20:4910-4921(2000) [PubMed] [Europe PMC] [Abstract]
  21. "Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita."Hum. Mutat. 18:547-547(2001) [PubMed] [Europe PMC] [Abstract]
  22. "Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression."J. Clin. Endocrinol. Metab. 86:3171-3175(2001) [PubMed] [Europe PMC] [Abstract]
  23. "Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita."J. Clin. Endocrinol. Metab. 87:44-48(2002) [PubMed] [Europe PMC] [Abstract]
  24. "Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation."J. Clin. Endocrinol. Metab. 88:1341-1349(2003) [PubMed] [Europe PMC] [Abstract]
  25. "Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene."Am. J. Med. Genet. A 135:72-74(2005) [PubMed] [Europe PMC] [Abstract]
  26. ErratumAm. J. Med. Genet. A 137:115-115(2005)