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Article

Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.

Neuromuscular disorders : NMD - 1 Aug 2017

Kulshrestha R, Burton-Jones S, Antoniadi T, Rogers M, Jaunmuktane Z, Brandner S, Kiely N, Manuel R, Willis T

Abstract excerpt

X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28601552
DOI: 10.1016/j.nmd.2017.05.001

Genes

GJB1
EGR2
SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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