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Summary Expression Phenotypes Gene Literature (0) GO Terms (14) Nucleotides (89) Proteins (39) Interactants (97) Wiki
XB-GENEPAGE-954752
???displayGene.symbol???:
 jph1

???displayGene.name???: 
junctophilin 1

???displayGene.synonyms???
LOC108695351 , LOC108719297 ( Nomenclature history )

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Junctional membrane complex protein Junctophilin and related MORN repeat proteins

AI Protein Function :
the jph1 protein is a junctional membrane complex-associated protein involved in the formation and stabilization of peripheral couplings between the sarcoplasmic reticulum and the plasma membrane, faci...[+]


InterPro :
Junctophilin, MORN

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Diseases: 


Disease Ontology:
Charcot-Marie-Tooth disease axonal type 2K

MIM:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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