JP

Drosophila melanogaster

junctophilin (jp) belongs to a gene family encoding proteins anchored to the endoplasmic reticulum through a transmembrane region. The product of jp contributes to the formation and maintenance of junctional membrane complexes. It serves as a physical bridge between the plasma membrane and the endoplasmic reticulum in excitable cells, allowing the functional crosstalk between ion channels. It is necessary for calcium signalling in muscle contraction and neuronal communication.

Pank2

Homo sapiens

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]