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  Domain Name: NR_LBD_ROR_like
The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily. The ligand binding domain (LBD) of Retinoid-related orphan receptors (RORs): Retinoid-related orphan receptors (RORs) are transcription factors belonging to the nuclear receptor superfamily. RORs are key regulators of many physiological processes during embryonic development. RORs bind as monomers to specific ROR response elements (ROREs) consisting of the consensus core motif AGGTCA preceded by a 5-bp A/T-rich sequence. Transcription regulation by RORs is mediated through certain corepressors, as well as coactivators. There are three subtypes of retinoid-related orphan receptors (RORs), alpha, beta, and gamma that differ only in N-terminal sequence and are distributed in distinct tissues. RORalpha plays a key role in the development of the cerebellum, particularly in the regulation of the maturation and survival of Purkinje cells. RORbeta expression is largely restricted to several regions of the brain, the retina, and pineal gland. RORgamma is essential for lymph node organogenesis. Recently, it has been su ggested that cholesterol or a cholesterol derivative is the natural ligand of RORalpha. Like other members of the nuclear receptor (NR) superfamily of ligand-activated transcription factors, retinoid-related orphan receptors have a central well conserved DNA binding domain (DBD), a variable N-terminal domain, a non-conserved hinge and a C-terminal ligand binding domain (LBD).
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 115
Total Disease Mutations Found: 65
This domain occurred 27 times on human genes (113 proteins).



  COLON CANCER, SOMATIC
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
  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














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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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