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  Domain Name: NR_LBD_Dax1_like
The ligand binding domain of DAX1 protein, a nuclear receptor lacking DNA binding domain. The ligand binding domain of DAX1-like proteins: This orphan nuclear receptor family includes DAX1 (dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on chromosome X gene 1) and the Small Heterodimer Partner (SHP). Both receptors have a typical ligand binding domain, but lack the DNA binding domain, typical to almost all of the nuclear receptors. They function as a transcriptional coregulator by directly interacting with other nuclear receptors. DAX1 and SHP can form heterodimers with each other, as well as with many other nuclear receptors. In addition, DAX1 can also form homodimers. DAX1 plays an important role in the normal development of several hormone-producing tissues. SHP has shown to regulate a variety of target genes.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 101
Total Disease Mutations Found: 53
This domain occurred 26 times on human genes (95 proteins).



  46,XY SEX REVERSAL 3
  ADRENAL HYPOPLASIA, CONGENITAL
  ADRENOCORTICAL INSUFFICIENCY
  ENHANCED S-CONE SYNDROME
  ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
  ESTROGEN RESISTANCE
  GOLDMANN-FAVRE SYNDROME, INCLUDED
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
  OBESITY, MILD, EARLY-ONSET
  PREMATURE OVARIAN FAILURE 7, INCLUDED
  THYROID HORMONE RESISTANCE, GENERALIZED
  THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
  THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
  THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, INCLUDED
  VARIANT OF UNKNOWN SIGNIFICANCE


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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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