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Preferential Binding of Mg Over Ca to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J.

Front Mol Neurosci. 2018; 
ValloneRosario,Dal CortivoGiuditta,D'OnofrioMariapina,Dell'OrcoDan
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PCR and Cloning … term_text":"Q13683"}}Q13683) comprised between residues 1101–1116 (α7B_M, Ac-LLLWKMGFFKRAKHPE-NH 2 ) and a scrambled peptide obtained by shuffling the α7B_M sequence (Scrb, Ac-KEFWGLHAKPRLKLMF-NH 2 ) were synthesized by GenScript USA Inc … Get A Quote

摘要

Calcium and integrin binding protein 2 (CIB2) shares with the other members of the CIB family the ability to bind Ca and Mg via two functional EF-hand motifs, namely EF3 and EF4. As a cation sensor, CIB2 is able to switch to a conformation likely associated with specific biological functions yet to be clarified. Recent findings demonstrate the involvement of CIB2 in hearing physiology and a single, conservative point mutation (p.E64D) has been related to Usher Syndrome type 1J (USH1J) and non-syndromic hearing loss. We present an exhaustive biochemical and biophysical characterization of human wild type (WT) and E64D CIB2. We found that CIB2 does not possibly work as a calcium sensor under physiological c... More

关键词

DFNB48,Usher syndrome 1J,allostery,calcium and integrin binding protein,calcium sensor,hearing loss,magnesium,nuclear magnetic reson