Disease-gene associations mined from literature

Literature associating JPH3 and neurodegeneration with brain iron accumulation 3

JPH3 [ENSP00000284262]

Trinucleotide repeat-containing gene 22 protein; 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,  B3KP13,  B4DIC1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM