Gjb6

Predicted to enable cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Acts upstream of or within ear morphogenesis and sensory perception of sound. Located in gap junction. Is expressed in bladder; spiral ligament; urinary system; and urothelium of bladder. Used to study Clouston syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Clouston syndrome; autosomal dominant nonsyndromic deafness 3B; autosomal recessive nonsyndromic deafness 1A; autosomal recessive nonsyndromic deafness 1B; and ectodermal dysplasia. Orthologous to human GJB6 (gap junction protein beta 6). [provided by Alliance of Genome Resources, Nov 2024]

预期该基因能够激活细胞骨架蛋白的结合活性以及参与细胞间电偶联的缝隙连接通道活性，进而影响细胞通讯。此基因在耳部形态发生及声音感知过程中发挥上游或内部作用。位于缝隙连接处。在膀胱、螺旋韧带、泌尿系统和膀胱尿路上皮中表达。用于研究Clouston综合征和常染色体隐性非综合征性聋1A型。与Clouston综合征、常染色体显性非综合征性聋3B型、常染色体隐性非综合征性聋1A型、常染色体隐性非综合征性聋1B型和外胚层发育不良相关的人类同源基因。与人类GJB6（缝隙连接蛋白β6）同源。[由基因组资源联盟提供，2024年11月]