GJB1

(redirected from connexin-32)

GJB1

A gene on chromosome Xq13.1 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB1 mutations cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy.
References in periodicals archive ?
Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
Saez, "Metabolic inhibition increases activity of connexin-32 hemichannels permeable to [Ca.sup.2+] in transfected HeLa cells," The American Journal of Physiology--Cell Physiology, vol.
Morita et al., "Connexin-47 and connexin-32 in gap junctions of oligodendrocyte somata, myelin sheaths, paranodal loops and Schmidt-Lanterman incisures: implications for ionic homeostasis and potassium siphoning," Neuroscience, vol.