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jp - junctophilin

Predicted to be involved in regulation of cardiac muscle tissue development. Predicted to be part of junctional membrane complex. Predicted to be active in endoplasmic reticulum membrane and plasma membrane. Is expressed in adult head; larval muscle system; and larval somatic muscle cell. Used to study cardiomyopathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K; Huntington's disease-like 2; dilated cardiomyopathy 2E; and hypertrophic cardiomyopathy 17. Orthologous to several human genes including JPH3 (junctophilin 3). [provided by Alliance of Genome Resources, Dec 2024]

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Species Gene Architecture aa