DISEASES

Disease-gene associations mined from literature

Literature on JPH3

JPH3 [ENSP00000284262]

Junctophilin-3; 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. JPH3 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory.

Synonyms:  JPH3,  JPH3p,  hJPH3,  Q8WXH2,  Q8WXH2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM