2qnd
From Proteopedia
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 disease 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. 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 Sun May 4 15:14:26 2008
