connexin 26

con·nex·in 26

(kŏ-neks'in),
The gap junction protein, the gene for which (Cx26), when mutated, accounts for a major portion of recessive nonsyndromic hearing impairment.

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.

con·nex·in 26

(kon-eks'in)
The gap junction protein, the gene for which (Cx26) when mutated, accounts for a major portion of recessive nonsyndromic hearing impairment.
References in periodicals archive ?
Expression of connexin 26 and Na, K-ATPase in the developing mouse cochlear lateral wall: functional implications.
A novel connexin 26 compound heterozygous mutation results in deafness.
To create mice with hearing loss, the researchers deleted the connexin 26 gene.
Hearing loss and connexin 26. J R Soc Med 2002;95:171-7.
Boyle, "GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review," Genetics in Medicine, vol.
Connexin 30 and connexin 26 are upregulated in psoriatic skin and have been associated with epidermal hyperproliferation [99, 102, 103].
In 2003, researchers from Italy identified autoantibodies produced in CS patients against a "Cogan peptide," which shared homology with laminin, connexin 26, cell density-enhanced protein tyrosine phosphatase-1 (DEP-1/CD148), SSA/Ro, and reovirus III major core protein lambda 1.
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.
A somatic mutation in the GJB2 gene, which encodes the gap junction protein connexin 26, has recently been implicated in the pathogenesis of PEODDN.
Reported mutations occur more frequently in GJB2 gene, which encodes the gap junction protein connexin 26 (beta 2, GJB2) [5].
GJB2 encodes the gap junction protein Connexin 26 (CX26), which is expressed in the cochlea and plays an important role in endolymphatic potassium recycling.
In mice with a deletion of connexin 26, prenatal or postnatal supplementation with beta-carotene, vitamins C and E, and magnesium slowed hearing loss progression and improved hearing thresholds.