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.

connexin 26

a protein found on the GJB2 gene. Autosomal-recessive mutation of the gene encoding it is the most common cause of congenital sensorineuronal hearing loss.

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 ?
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.
GJB2 encodes the gap junction protein Connexin 26 (CX26), which is expressed in the cochlea and plays an important role in endolymphatic potassium recycling.
Findings from a study appearing in Scientific Reports suggest a role for a combination of free radical scavengers in the prevention of a common form of hereditary deafness caused by mutations in the connexin 26 gene.
A study found that an antioxidant regimen of beta carotene (precursor to vitamin A), vitamins C and E and magnesium helped slow progression of hereditary deafness in mice, with a deletion in Connexin 26 gene a protein found on the gene and the most common cause of innate hearing loss,Health News reported.
15) This study showed that Cx43 was highly expressed in RA synovial membranes in comparison with OA or normal synovial membranes, but expression of connexin 26 or 32 was not observed (data not shown).
The connexin proteins are named according to their weight; connexin 26 is a protein with a molecular weight of 26 kDa.
Most nonsyndromic genetic hearing loss is autosomal recessive, with mutation in the connexin 26 protein being the most common.
Avraham of the Department of Human Molecular Genetics and Biochemistry at the University of Sackler Faculty of Medicine and Yehoash Raphael of the Department of Otolaryngology-Head and Neck Surgery at University of Michigan's Kresge Hearing Research Institute, doctoral student Shaked Shivatzki created a mouse population possessing the gene that produces the most prevalent form of hearing loss in humans: the mutated connexin 26 gene.
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene.