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Article

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.

Molecular and cellular neurosciences - 1 Apr 2007

Orthmann-Murphy Jennifer L, Enriquez Alan D, Abrams Charles K, Scherer Steven S

Abstract excerpt

Recessive mutations in GJA12/Cx47, the gene encoding the gap junction protein connexin47 (Cx47), cause Pelizaeus-Merzbacher-like disease (PMLD), which is characterized by severe CNS dysmyelination. Three missense PMLD mutations, P87S, Y269D and M283T, were expressed in communication-incompetent HeLa cells, and in each case the mutant proteins appeared to at least partially accumulate in the ER. Cells expressing...

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Identifiers

PMID: 17344063
DOI: 10.1016/j.mcn.2007.01.010
PMCID: PMC1937038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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