Literature associating JPH3 and Huntington's disease
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 ...