2qnd
From Proteopedia
(New page: 200px<br /> <applet load="2qnd" size="450" color="white" frame="true" align="right" spinBox="true" caption="2qnd, resolution 1.90Å" /> '''Crystal Structure o...) |
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| - | [[Image:2qnd. | + | [[Image:2qnd.jpg|left|200px]]<br /><applet load="2qnd" size="350" color="white" frame="true" align="right" spinBox="true" |
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caption="2qnd, resolution 1.90Å" /> | caption="2qnd, resolution 1.90Å" /> | ||
'''Crystal Structure of the KH1-KH2 domains from human Fragile X Mental Retardation Protein'''<br /> | '''Crystal Structure of the KH1-KH2 domains from human Fragile X Mental Retardation Protein'''<br /> | ||
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==Overview== | ==Overview== | ||
Fragile X syndrome is the most common form of inherited mental retardation, in humans, with an estimated prevalence of about 1 in 4000 males. Although, several observations indicate that the absence of functional Fragile X, Mental Retardation Protein (FMRP) is the underlying basis of Fragile X, syndrome, the structure and function of FMRP are currently unknown. Here, we present an X-ray crystal structure of the tandem KH domains of human, FMRP, which reveals the relative orientation of the KH1 and KH2 domains, and the location of residue Ile304, whose mutation to Asn is associated, with a particularly severe incidence of Fragile X syndrome. We show that, the Ile304Asn mutation both perturbs the structure and destabilizes the, protein. | Fragile X syndrome is the most common form of inherited mental retardation, in humans, with an estimated prevalence of about 1 in 4000 males. Although, several observations indicate that the absence of functional Fragile X, Mental Retardation Protein (FMRP) is the underlying basis of Fragile X, syndrome, the structure and function of FMRP are currently unknown. Here, we present an X-ray crystal structure of the tandem KH domains of human, FMRP, which reveals the relative orientation of the KH1 and KH2 domains, and the location of residue Ile304, whose mutation to Asn is associated, with a particularly severe incidence of Fragile X syndrome. We show that, the Ile304Asn mutation both perturbs the structure and destabilizes the, protein. | ||
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| - | ==Disease== | ||
| - | Known diseases associated with this structure: Fragile X syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550 309550]], Fragile X tremor/ataxia syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550 309550]] | ||
==About this Structure== | ==About this Structure== | ||
| - | 2QND is a [http://en.wikipedia.org/wiki/Single_protein Single protein] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] with MG as [http://en.wikipedia.org/wiki/ligand ligand]. Full crystallographic information is available from [http:// | + | 2QND is a [http://en.wikipedia.org/wiki/Single_protein Single protein] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] with <scene name='pdbligand=MG:'>MG</scene> as [http://en.wikipedia.org/wiki/ligand ligand]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2QND OCA]. |
==Reference== | ==Reference== | ||
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[[Category: type i kh domains]] | [[Category: type i kh domains]] | ||
| - | ''Page seeded by [http:// | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Jan 23 12:23:38 2008'' |
Revision as of 10:23, 23 January 2008
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Crystal Structure of the KH1-KH2 domains from human Fragile X Mental Retardation Protein
Overview
Fragile X syndrome is the most common form of inherited mental retardation, in humans, with an estimated prevalence of about 1 in 4000 males. Although, several observations indicate that the absence of functional Fragile X, Mental Retardation Protein (FMRP) is the underlying basis of Fragile X, syndrome, the structure and function of FMRP are currently unknown. Here, we present an X-ray crystal structure of the tandem KH domains of human, FMRP, which reveals the relative orientation of the KH1 and KH2 domains, and the location of residue Ile304, whose mutation to Asn is associated, with a particularly severe incidence of Fragile X syndrome. We show that, the Ile304Asn mutation both perturbs the structure and destabilizes the, protein.
About this Structure
2QND is a Single protein structure of sequence from Homo sapiens with as ligand. Full crystallographic information is available from OCA.
Reference
Fragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein., Valverde R, Pozdnyakova I, Kajander T, Venkatraman J, Regan L, Structure. 2007 Sep;15(9):1090-8. PMID:17850748
Page seeded by OCA on Wed Jan 23 12:23:38 2008
