Automated description from the Alliance of Genome Resources
A structural constituent of muscle. Involved in muscle organ development. Localizes to several cellular components, including the Z disc; junctional membrane complex; and junctional sarcoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Is expressed in heart and skeletal muscle. Orthologous to human JPH1 (junctophilin 1).