Jph1 - junctophilin 1 Gene

About Jph1

Summary

Predicted to be a structural constituent of muscle. Predicted to act upstream of or within muscle organ development. Predicted to be located in Z disc; junctional sarcoplasmic reticulum membrane; and nucleoplasm. Predicted to be part of junctional membrane complex. Predicted to be active in endoplasmic reticulum membrane; plasma membrane; and sarcoplasmic reticulum. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1). [provided by Alliance of Genome Resources, Apr 2022]