GJB1

(redirected from CX32)

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 ?
Connexins CX26, CX32, and CX43, that form gap junctions and provide long range cell signaling within epithelia, appear down-regulated as the expression profiles of three malignant odontogenic tumors with those of the three benign ameloblastomas.
CX32 is thought to form gap junctions that promote the diffusion pathway between cells.
The reported GJB1 mutations are predicted to affect all regions of the CX32 protein.
sup][21] CX32 is expressed by Schwann cells in the PNS and oligodendrocytes in CNS.