XB-GENEPAGE-954752
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jph1
???displayGene.name???:
junctophilin 1
???displayGene.synonyms???
LOC108695351
,
LOC108719297
(
Nomenclature history )
???displayGene.geneFunction???
Junctional membrane complex protein Junctophilin and related MORN repeat proteins
AI Protein Function
:
jph1 encodes a membrane‑associated junctional protein that forms a physical link between the plasma membrane and the sarcoplasmic reticulum, facilitating excitation‑contraction coupling in skeletal mus...[+]
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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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