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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 the activity of the Cx32 promoter and the affinity for SOX10 binding. These data suggest that interaction between the...

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Methodology Data sources Editorial policy Privacy Delete account & data 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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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