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  Domain Name: NR_LBD_Dax1
The ligand binding domain of DAX1 protein, a nuclear receptor lacking DNA binding domain. The ligand binding domain of the DAX1 protein: DAX1 (dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on chromosome X gene 1) is a nuclear receptor with a typical ligand binding domain, but lacks the DNA binding domain. DAX1 plays an important role in the normal development of several hormone-producing tissues. Duplications of the region of the X chromosome containing DAX1 cause dosage sensitive sex reversal. DAX1 acts as a global repressor of many nuclear receptors, including SF-1, LRH-1, ERR, ER, AR and PR. DAX1 can form homodimer and heterodimerizes with its alternatively spliced isoform DAX1A and other nuclear receptors such as SHP, ERalpha and SF-1.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 45
Total Disease Mutations Found: 27
This domain occurred 18 times on human genes (63 proteins).



  46,XY SEX REVERSAL 3
  ADRENAL HYPOPLASIA, CONGENITAL
  ADRENOCORTICAL INSUFFICIENCY
  ENHANCED S-CONE SYNDROME
  GOLDMANN-FAVRE SYNDROME, INCLUDED
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
  OBESITY, MILD, EARLY-ONSET
  PREMATURE OVARIAN FAILURE 7, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
putative ligand binding s
putative coactivator reco
heterotrimer interface














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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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