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Article

Conformational changes associated with L16P and T118M mutations in the membrane-embedded PMP22 protein, consequential in CMT-1A.

Journal of biomolecular structure & dynamics - 1 Oct 2017

Bello Martiniano, Torres Mixtli J, Méndez-Tenorio Alfonso, Correa-Basurto José

Abstract excerpt

Peripheral myelin protein 22 (PMP22) resides in the plasma membrane and is required for myelin formation in the peripheral nervous system. Excess PMP22 mutants accumulate in the endoplasmic reticulum (ER) resulting in the inherited neuropathies of Charcot-Marie-Tooth disease. However, there was no evidence of the structure of PMP22 or how mutations affect its folding. Therefore, in this study, we combined...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Conformation, alpha-Helical

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Source

Identifiers

PMID: 27609586
DOI: 10.1080/07391102.2016.1234415

Genes

PMP22
RER1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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