Entrez 57338 | Ensembl ENSG00000154118 | |
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Aliases JPH3, CAGL237, HDL2, JP-3, JP3, TNRC22, junctophilin 3 External IDs MGI: 1891497 HomoloGene: 10762 GeneCards: JPH3 |
Junctophilin-3 is a protein that in humans is encoded by the JPH3 gene.
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family.
References
JPH3 Wikipedia(Text) CC BY-SA