Preferred Label : Connexin 26;

MeSH definition : A gap junction protein encoded by the Gap Junction Beta 2 or GJB2 gene. In the cochlea and epidermis, its hexamers form channels between cells that open to allow cell-to-cell diffusion of small molecules as well as recycling of potassium. Mutations in Connexin 26 are associated with congenital SENSORINEURAL HEARING LOSS.;

MeSH synonym : 26, Connexin; beta2 Connexin; Connexin, beta2; Connexin beta-2; Connexin beta 2; beta-2, Connexin; Connexin Cx26; Cx26, Connexin;

DeCS synonym : Gap Junction beta-2 protein;

MeSH hyponym : Gap Junction beta 2 protein;

Registry Number MeSH : 127120-53-0;

Wikipedia link : https://en.wikipedia.org/wiki/Connexin 26;

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A gap junction protein encoded by the Gap Junction Beta 2 or GJB2 gene. In the cochlea and epidermis, its hexamers form channels between cells that open to allow cell-to-cell diffusion of small molecules as well as recycling of potassium. Mutations in Connexin 26 are associated with congenital SENSORINEURAL HEARING LOSS.

https://anpgm.fr/media/documents/ANPGM_034_Surdit_par_mutation_DFNB1_GJB2_GJB6.doc
2009
France
guideline
Connexin 30
Deletion
deafness
deafness, nos
Hearing loss
Connexin 26
Household accident
Pernicious attack
nonsyndromic deafness
deafness

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27/07/2025


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