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Article

Diseases of connexins expressed in myelinating glia.

Neuroscience letters - 16 Mar 2019

Abrams Charles K

Abstract excerpt

Connexins are a family of integral membrane proteins most of which form gap junctions and many of which form hemichannels as well. Mutations in at least 9 of the 21 genes encoding human connexin proteins cause human diseases. Mutations in GJB1 (Cx32), expressed in both Schwann cells and oligodendrocytes, cause both a form of inherited peripheral neuropathy and a variety of CNS symptoms. Mutations in GJC2 (Cx47),...

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Source

Identifiers

PMID: 28545922
DOI: 10.1016/j.neulet.2017.05.037

Genes

GJB1
GJC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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