1h4r

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Revision as of 15:06, 12 November 2007

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spinqualitylabelsall models 1h4r, resolution 1.80Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image

CRYSTAL STRUCTURE OF THE FERM DOMAIN OF MERLIN, THE NEUROFIBROMATOSIS 2 TUMOR SUPPRESSOR PROTEIN.

Contents 1 Overview 2 Disease 3 About this Structure 4 Reference

Overview

Neurofibromatosis type 2 is an autosomal dominant disorder characterized, by central nervous system tumors. The cause of the disease has been traced, to mutations in the gene coding for a protein that is alternately called, merlin or schwannomin and is a member of the ERM family (ezrin, radixin, and moesin). The ERM proteins link the cytoskeleton to the cell membrane, either directly through integral membrane proteins or indirectly through, membrane-associated proteins. In this paper, the expression, purification, crystallization and crystal structure of the N-terminal domain of merlin, are described. The crystals exhibit the symmetry of space group, P2(1)2(1)2(1), with two molecules in the asymmetric unit. The recorded, diffraction pattern extends to 1.8A resolution. The structure was solved, by the molecular-replacement method and the model was refined to a, conventional R value of 19.3% (R(free) = 22.7%). The N-terminal domain of, merlin closely resembles those described for the corresponding domains in, moesin and radixin and exhibits a cloverleaf architecture with three, distinct subdomains. The structure allows a better rationalization of the, impact of selected disease-causing mutations on the integrity of the, protein.

Disease

Known diseases associated with this structure: 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:[601609], Hyperinsulinemic hypoglycemia, familial, 4 OMIM:[601609], Meningioma, NF2-related, somatic OMIM:[607379], Neurofibromatosis, type 2 OMIM:[607379], Schwannomatosis OMIM:[607379]

About this Structure

1H4R is a Single protein structure of sequence from Homo sapiens with SO4 as ligand. Full crystallographic information is available from OCA.

Reference

The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product., Kang BS, Cooper DR, Devedjiev Y, Derewenda U, Derewenda ZS, Acta Crystallogr D Biol Crystallogr. 2002 Mar;58(Pt 3):381-91. Epub 2002, Feb 21. PMID:11856822

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