DISEASES

Disease-gene associations mined from literature

Literature associating JPH1 and entropion

JPH1 [ENSP00000344488]

Junctophilin type 1; 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. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes.

Synonyms:  JPH1,  JPH1p,  hJPH1,  DKFZP762L0313,  DKFZP779I2251 ...

Linkouts:  STRING  Pharos  UniProt  OMIM