• 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]
  

JPH4 (Junctophilin 4) is a Protein Coding gene. Diseases associated with JPH4 include Huntington Disease-Like 2 and Malignant Hyperthermia. An important paralog of this gene is JPH3.