| Structural highlights
Disease
ERR2_HUMAN Defects in ESRRB are the cause of deafness autosomal recessive type 35 (DFNB35) [MIM:608565. DFNB35 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.[1]
Function
ERR2_HUMAN Nuclear receptor, may regulate ESR1 transcriptional activity.[2]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
See Also
References
- ↑ Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008. PMID:18179891 doi:10.1016/j.ajhg.2007.09.008
- ↑ Bombail V, Collins F, Brown P, Saunders PT. Modulation of ER alpha transcriptional activity by the orphan nuclear receptor ERR beta and evidence for differential effects of long- and short-form splice variants. Mol Cell Endocrinol. 2010 Jan 15;314(1):53-61. doi: 10.1016/j.mce.2009.09.007., Epub 2009 Sep 13. PMID:19755138 doi:10.1016/j.mce.2009.09.007
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