Description
Product Characteristics:
Junctophilins are components of the junctional complexes between plasma membranes and endoplasmic or sarcoplasmic reticulums present in all excitable cells. Junctophilins contain a cytoplasmic domain which binds to the plasma membrane, as well as an ER/SR membrane spanning hydrophobic C-terminal segment. The three subtypes in this family are Junctophilin-1, -2 and -3. Junctophilin-1 is predominantly expressed in skeletal muscle, but is also expressed at low levels in heart. Junctophilin-2 is expressed in heart and skeletal muscle. Mutant mice lacking the Jph2 gene exhibit embryonic lethality and possess cardiac myocytes that express abnormal calcium transients. Junctophilin-3 is expressed in brain. The JPH3 alternatively spliced exon 2A has been suggested as a site for CTG repeat expansion leading to a Huntington disease-like autosomal dominant disorder.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: JP-3, JP3, JPH3, JPH3_HUMAN, Junctophilin3, Junctophilin type 3, Junctophilin-3, TNRC22, Trinucleotide repeat-containing gene 22 protein.
Target Information: Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]