2qnd
From Proteopedia
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==Overview== | ==Overview== | ||
| - | Fragile X syndrome is the most common form of inherited mental retardation | + | 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== | ||
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[[Category: type i kh domains]] | [[Category: type i kh domains]] | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Feb 21 18:40:38 2008'' |
Revision as of 16:40, 21 February 2008
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Crystal Structure of the KH1-KH2 domains from human Fragile X Mental Retardation Protein
Contents |
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.
Disease
Known diseases associated with this structure: Fragile X syndrome OMIM:[309550], Fragile X tremor/ataxia syndrome OMIM:[309550]
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 Thu Feb 21 18:40:38 2008
