JPH4
Description
The JPH4 (junctophilin 4) is a protein-coding gene located on chromosome 14.
JPH4 gene encodes a junctophilin family protein involved in forming junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. This protein contains a conserved N-terminal region called the membrane occupation and recognition nexus sequence. Alternative splicing results in multiple transcript variants.
Junctophilins play a crucial role in forming junctional membrane complexes (JMCs), which bridge the plasma membrane and the endoplasmic or sarcoplasmic reticulum in excitable cells. These complexes provide a structural framework for communication between the cell surface and intracellular calcium release channels. JPH4, specifically found in the brain, is believed to be actively involved in certain neurons responsible for motor coordination and memory.
JPH4 is also known as JP4, JPHL1.
