2qnd

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spinqualitylabelsall models 2qnd, resolution 1.90Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image

Crystal Structure of the KH1-KH2 domains from human Fragile X Mental Retardation Protein

Contents 1 Overview 2 Disease 3 About this Structure 4 Reference

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 MG 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

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