Preferred Label : Connexin 30;

MeSH definition : A gap junction beta subunit that forms heteromeric hemichannels when paired with alpha subunits such as connexin-40 or CONNEXIN 43. Mutations in the connexin 30 gene (GJ6B) are associated with CLOUSTON'S SYNDROME and some hereditary forms of deafness.;

MeSH synonym : Gap Junction beta-6 Protein; Gap Junction beta 6 Protein; CX30 Channels; Channels, CX30; GJB6 Protein;

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A gap junction beta subunit that forms heteromeric hemichannels when paired with alpha subunits such as connexin-40 or CONNEXIN 43. Mutations in the connexin 30 gene (GJ6B) are associated with CLOUSTON'S SYNDROME and some hereditary forms of deafness.

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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04/05/2025


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