Ontology highlight
ABSTRACT:
SUBMITTER: Zhang J
PROVIDER: S-EPMC3132585 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Molecular and cellular neurosciences 20101030 2
Mutations in GJB2, the gene encoding the human gap junction protein connexin26 (Cx26), cause either non-syndromic hearing loss or syndromes affecting both hearing and skin. We have investigated whether dominant Cx26 mutants can interact physically with wild type Cx26. HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three ass ...[more]