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JPH3
junctophilin 3
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. Alternatively spliced transcript variants have been described for this gene.
| Gene Name: | junctophilin 3 |
| Synonyms: | JPH3, CAGL237, Junctophilin type 3, Junctophilin-3, JP3, TNRC22, HDL2, JP-3, Junctophilin 3 |
| Target Sequences: | NM_020655 NP_065706.2 Q8WXH2 |
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