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 ?
PMP22, MPZ, MFN2, GDAP1, NEFL, CX32, MYH14, LMNA, TRPV4, LITAF.
Downregulation of oligodendrocytic Cx32, Cx47, and astrocytic Cx43 had been identified in the active lesions of CNS in MS patients and EAE mice [88-90].
pylori-associated gastric cancer in our previous findings, which was explained by the decreased Cx32 and Cx43 expression and disordered gap junction in vitro and in vivo [12].
Yoshihara et al., "Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients," Brain, vol.
To date, at least 15 connexin genes have been reported in mammals, and seven genes (Cx26, Cx30, Cx32, Cx37, Cx43, Cx45, and Cx60) are expressed in the ovary.
baja en la expresion de Cx43 y Cx32. (47) Interesantemente, las hormonas
MECP2-deficient microglia release excess glutamate, in vitro, via connexin 32 (Cx32) hemichannel-mediated release, as a consequence of enhanced glutaminase expression [95].
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.
Cx43 was not detected at the thecal cell layer or at the border between GCs and oocytes where Cx26 and Cx32 were found to be predominant, respectively (data not shown).
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.
To evaluate the expression of Cx26, Cx32, Cx37 and Cx43 during the periovulatory period, ovaries were collected from ewes (n = 5-7/group) injected twice daily with follicle stimulating hormone (FSH) on days 13 and 14 of the estrous cycle, and with FSH and human chorionic gonadotropin (hCG; ovulatory dose) on the morning of day 15 of the estrous cycle.
Candidate genes are going to be tested according to the phenotype; the duplication in chromosome 17, and mutations in PMP22, Cx32 and MPZ, as well as in other genes will be searched.