Aliases for JPH4 Gene
External Ids for JPH4 Gene
Previous HGNC Symbols for JPH4 Gene
Previous GeneCards Identifiers for JPH4 Gene
This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
GeneCards Summary for JPH4 Gene
JPH4 (Junctophilin 4) is a Protein Coding gene. An important paralog of this gene is JPH2.
UniProtKB/Swiss-Prot for JPH4 Gene
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity).