Background: Point mutations in two genes encoding chaperonin subunits have been implicated in neuropathies. Results: CCT4 and CCT5 proteins carrying these mutations were expressed in bacteria and investigated for their biochemical defects. Conclusion: H147R CCT5 is faulty in chaperoning function, whereas C450Y CCT4 may be defective in protein stability. Significance: These biochemical defects may be the source of these neuropathies in patients.
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