Gjb2

Enables gap junction channel activity. Involved in cell-cell signaling and gap junction-mediated intercellular transport. Acts upstream of or within gap junction assembly. Located in gap junction and plasma membrane. Part of connexin complex. Is expressed in several structures, including alimentary system; ear; genitourinary system; meninges; and skin. Used to study autosomal dominant keratitis-ichthyosis-deafness syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; nonsyndromic deafness (multiple); and palmoplantar keratoderma-deafness syndrome. Orthologous to human GJB2 (gap junction protein beta 2). [provided by Alliance of Genome Resources, Nov 2024]

激活间隙连接通道活性。参与细胞间信号传导和间隙连接介导的细胞间运输。位于间隙连接组装的上游或其中。定位于间隙连接和质膜上。构成连结蛋白复合体的一部分。在多个结构中表达，包括消化系统、耳部、泌尿生殖系统、脑膜和皮肤。用于研究常染色体显性角膜-鱼鳞病-耳聋综合征和常染色体隐性非综合征性聋1A。与巴特-庞弗雷综合征、沃欣克尔综合征、常染色体显性角膜-鱼鳞病-耳聋综合征、非综合征性聋（多重）和掌跖角化过度-耳聋综合征相关的基因的人类同源基因。与人类GJB2（间隙连接蛋白β2）同源。[由基因组资源联盟提供，2024年11月]