| Gene Symbol | JPH1 |
| Entrez Gene ID | 56704 |
| Full Name | junctophilin 1 |
| Synonyms | CMT2K,JP-1,JP1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3) |
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