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Article

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.

Annals of neurology - 1 Nov 2004

Houlden Henry, Girard Mathilde, Cockerell Charles, Ingram David, Wood Nicholas W, Goossens Michel, Walker Rodney W H, Reilly Mary M

Abstract excerpt

We identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp. This mutation was in a highly conserved SOX10 binding site. Functional studies were conducted on the Cx32 promoter that showed that this mutation reduced...

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Share to Charcot-Marie-Tooth Disease
Share to Electrophoretic Mobility Shift Assay
Share to Gap Junction beta-1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15470753
DOI: 10.1002/ana.20267

Genes

SOX10
EGR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15470753-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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