DISEASES

Disease-gene associations mined from literature

Literature associating JPH4 and Huntington's disease-like 2

JPH4 [ENSP00000380307]

Junctophilin-4; 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).

Synonyms:  JPH4,  JPH4p,  hJPH4,  A0A087WWT0,  F5H1L9 ...

Linkouts:  STRING  Pharos  UniProt