This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010].
Berthoud, Minogue, Snabb, Dzhashiashvili, Novak, Zoltoski, Popko, Beyer: "Connexin23 deletion does not affect lens transparency." in: Experimental eye research, Vol. 146, pp. 283-8, (2017) (PubMed).
Locher, de Groot, van Iperen, Huisman, Frijns, Chuva de Sousa Lopes: "Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss." in: Developmental neurobiology, Vol. 75, Issue 11, pp. 1219-40, (2015) (PubMed).
Aliases for GJE1 抗体
gap junction protein, epsilon 1 (Gje1) 抗体 gap junction protein epsilon 1 (GJE1) 抗体 AEY12 抗体 Cx23 抗体 CX23 抗体 D230044M03Rik 抗体 Gjf1 抗体 Gsfaey12 抗体 RGD1308189 抗体