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 ?
X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is a hereditary chronic progressive disease, which is caused by mutations in the gap junction beta-1 protein ( GJB1 ) gene encoding the gap junction protein connexin 32 (Cx32).
CNS involvement in CMTX1 caused by a novel connexin 32 mutation: A 6-year follow-up in neuroimaging and nerve conduction.
Clinical, electrophysiological and connexin 32 gene mutation analysis with X-linked dominant Charcot-Marie Tooth disease.
Specific localization of gap junction protein connexin 32 in the gastric mucosa of horses.
Following treatment of cells with VK(2), there was an increase in gap junctional intercellular communication activity, accompanied by up-regulation of connexin 32 (Cx32), dominantly expressed in normal hepatocyte.
ELISA has confirmed dose dependent increases in connexin 26 in DU-145; connexin 26, 40, and 45 in A549; connexin 32, 40, 43, and 45 in HS-578T; and connexin 45 in IMR-90.
Additionally, CMT1 has been associated with mutations at the following genes: PMP22, connexin 32 gene or gap junction protein B1 gene (GJB1), the myelin protein zero gene (MPZ), the early growth response gene 2 (EGR2), the myotubularin-related protein 2 gene (MTMR2), the N-myc downstream-regulated protein 2 gene (NDRG1) and the periaxin gene (PRX) (Nelis et al.
Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.
Still other patients with type 1 CMT have a defect in a gene located on the X chromosome known as connexin 32 (Cx32).
More than 400 mutations have been identified in the GJB1 gene that encodes connexin 32 (CX32).
be/CMTMutations/) that encodes connexin 32 (CX32), a myelin-related protein in the peripheral nervous system (PNS) and central nervous system (CNS) that is considered to form gap junctions (GJs) that shorten the diffusion pathway of ions and small molecules between cells.