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].
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Moriguchi, Nishi, Komazaki, Sakagami, Miyazaki, Masumiya, Saito, Watanabe, Kondo, Yawo, Fukunaga, Takeshima: "Functional uncoupling between Ca2+ release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 103, Issue 28, pp. 10811-6, (2006) (PubMed).
Nishi, Sakagami, Komazaki, Kondo, Takeshima: "Coexpression of junctophilin type 3 and type 4 in brain." in: Brain research. Molecular brain research, Vol. 118, Issue 1-2, pp. 102-10, (2003) (PubMed).
