Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins.

Abstract excerpt

Phenotypes of several heritable disorders including forms of hearing loss, myelin diseases, hypomagnesemia, and cataracts are linked to missense mutations in single alleles encoding membrane proteins having four transmembrane spans. In some cases, the mutant proteins exhibit dominant negative or gain-of-function behavior whereby heterozygous coexpression of mutant and wild-type genes leads to more serious...

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