JPH3 : junctophilin 3
Description
The JPH3 (junctophilin 3) is a protein-coding gene located on chromosome 16.
The JPH3 gene provides instructions for making a protein called junctophilin-3, which is found primarily in the brain. Research shows that junctophilin-3 plays a role in the formation of a structure called the junctional membrane complex. This complex acts as a link between the inside of the cell and the outside of the cell. Specifically, it connects certain channels on the surface of a cell compartment called the endoplasmic reticulum with other channels at the cell surface. The junctional membrane complex appears to be involved in transmitting signals after these channels release of charged calcium atoms (calcium ions). As part of the junctional membrane complex, junctophilin-3 is probably involved in signaling within and between nerve cells (neurons) in the brain. One region of the JPH3 gene contains a particular DNA segment known as a CAG/CTG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (nucleotides) that appear multiple times in a row. Normally, the CAG/CTG segment is repeated 6 to 28 times within the gene.
JPH3 is also known as CAGL237, HDL2, JP-3, JP3, TNRC22.
