Jph1 junctophilin 1 [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 57339)
Source: NCBI Gene (ID 57339)
Symbol: Jph1
Full name: junctophilin 1
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Also known as: JP-1; Jp1
Summary: A structural constituent of muscle. Acts upstream of or within muscle organ development. Located in Z disc; junctional sarcoplasmic reticulum membrane; and plasma membrane. Part of junctional membrane complex. Is expressed in heart and skeletal muscle. 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]
Expression: Broad expression in bladder adult (RPKM 4.8), cerebellum adult (RPKM 3.9) and 18 other tissues
Orthologs: human
Gene size: 155805bp
Exon count: 9