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  Domain Name: NR_LBD_PPAR
The ligand binding domain of peroxisome proliferator-activated receptors. The ligand binding domain (LBD) of peroxisome proliferator-activated receptors (PPAR): Peroxisome proliferator-activated receptors (PPARs) are members of the nuclear receptor superfamily of ligand-activated transcription factors. PPARs play important roles in regulating cellular differentiation, development and lipid metabolism. Activated PPAR forms a heterodimer with the retinoid X receptor (RXR) that binds to the hormone response element located upstream of the peroxisome proliferator responsive genes and interacts with co-activators. There are three subtypes of peroxisome proliferator activated receptors, alpha, beta (or delta), and gamma, each with a distinct tissue distribution. Several essential fatty acids, oxidized lipids and prostaglandin J derivatives can bind and activate PPAR. Like other members of the nuclear receptor (NR) superfamily of ligand-activated transcription factors, PPAR has a central well conserved DNA binding domain (DBD), a variable N-terminal regulatory domain, a flexible hinge a nd a C-terminal ligand binding domain (LBD).
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 158
Total Disease Mutations Found: 79
This domain occurred 28 times on human genes (115 proteins).



  COLON CANCER, SOMATIC
  ENHANCED S-CONE SYNDROME
  GOLDMANN-FAVRE SYNDROME, INCLUDED
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
  MICROPHTHALMIA, SYNDROMIC 12
  THYROID HORMONE RESISTANCE, GENERALIZED
  THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
  THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
  THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
  THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, INCLUDED
  VARIANT OF UNKNOWN SIGNIFICANCE
  VITAMIN D-DEPENDENT RICKETS, TYPE 2A


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
ligand binding site
coactivator recognition s
heterodimer 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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