Harman Patil (Editor)

JPH3

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Species
  
Entrez
  
57338

Human
  
Ensembl
  
ENSG00000154118

JPH3

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


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