GJB2

(redirected from CX26)

GJB2

Notation for a gene for DFNA3 and the gene for DFNB1.

GJB2

A gene on chromosome 13q11-q12 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB2 mutations are linked to as many as 50% of pre-lingual recessive deafness, and specifically Bart-Pumphrey syndrome.
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References in periodicals archive ?
We discovered that CO2 binds to and opens membrane channels formed from Connexin26 (Cx26), allowing them to release ATP, which then activates the neural circuits that control breathing.
In addition, repeated seizures can induce changes in different Cx gene (Cx26, 32, and 43) expression during the postnatal development, especially gradually elevated expression of Cx43 and GJIC remodeling [118] (Table 3).
The effect of the mutation at the protein level is occurence of a nonfunctional Cx26 protein composed of 12 amino acids instead of a normal protein composed of 226 amino acids (p.G12Vfs*2) (15).
Sulkowski, "Eventual proapoptotic or anti-apoptotic impact of aberrantly expressed Cx43 and Cx26 can depend on ER-alpha overexpression in human endometrioid adenocarcinoma," Gynecological Endocrinology, vol.
GJB2 encodes the gap junction protein Connexin 26 (CX26), which is expressed in the cochlea and plays an important role in endolymphatic potassium recycling.
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.
Verselis, "Differentially altered [Ca.sup.2+] regulation and [Ca.sup.2+] permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome," Journal of General Physiology, vol.
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.
Mo lecular studies in the GJB2 gene (Cx26) among a deaf population from Bogota, Colombia: results of a screening program.
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).
Ja foram descritas mais de cem mutacoes no gene GJB2 da Cx26, tendo a maioria delas expressao na coclea.
This study utilized reverse-transcriptase real-time polymerase chain reaction to investigate the level of Cx26 mRNA within GT1-7 cells after passaging.