| Protein Name | junctophilin 3 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 57338 |
| Gene Symbol | JPH3 |
| UniProt | Q8WXH2 (JPH3_HUMAN), B4DIC1 (B4DIC1_HUMAN), F8W9A3 (F8W9A3_HUMAN), Q96HD8 (Q96HD8_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
233
Total Number of Articles : 831 |
Description |
junctophilin 3 |
| Gene 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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016] |
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| Properties | |