2qnd: Difference between revisions
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New page: left|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" | ||
<applet load="2qnd" size=" | |||
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. | ||
==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'' | ||
