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===ESTROGEN RELATED RECEPTOR 2 DNA BINDING DOMAIN IN COMPLEX WITH DNA=== | ===ESTROGEN RELATED RECEPTOR 2 DNA BINDING DOMAIN IN COMPLEX WITH DNA=== | ||
{{ABSTRACT_PUBMED_12654265}} | {{ABSTRACT_PUBMED_12654265}} | ||
==Disease== | |||
[[http://www.uniprot.org/uniprot/ERR2_HUMAN ERR2_HUMAN]] Defects in ESRRB are the cause of deafness autosomal recessive type 35 (DFNB35) [MIM:[http://omim.org/entry/608565 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.<ref>PMID:18179891</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ERR2_HUMAN ERR2_HUMAN]] Nuclear receptor, may regulate ESR1 transcriptional activity.<ref>PMID:19755138</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:012654265</ref><references group="xtra"/> | <ref group="xtra">PMID:012654265</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Dyson, H J.]] | [[Category: Dyson, H J.]] | ||
Revision as of 12:19, 24 March 2013
ESTROGEN RELATED RECEPTOR 2 DNA BINDING DOMAIN IN COMPLEX WITH DNAESTROGEN RELATED RECEPTOR 2 DNA BINDING DOMAIN IN COMPLEX WITH DNA
Template:ABSTRACT PUBMED 12654265
DiseaseDisease
[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]
FunctionFunction
[ERR2_HUMAN] Nuclear receptor, may regulate ESR1 transcriptional activity.[2]
About this StructureAbout this Structure
1lo1 is a 3 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ 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