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.
Margolis RL, Abraham MR, Gatchell SB et al. (1997). "cDNAs with long CAG trinucleotide repeats from human brain.". Hum. Genet.100 (1): 114–22. doi:10.1007/s004390050476. PMID9225980.CS1 maint: Explicit use of et al. (link)
Olin KL, Potter-Perigo S, Barrett PH et al. (2001). "Biglycan, a vascular proteoglycan, binds differently to HDL2 and HDL3: role of apoE.". Arterioscler. Thromb. Vasc. Biol.21 (1): 129–35. doi:10.1161/01.ATV.21.1.129. PMID11145944.CS1 maint: Explicit use of et al. (link)
Holmes SE, O'Hearn E, Rosenblatt A et al. (2001). "A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.". Nat. Genet.29 (4): 377–8. doi:10.1038/ng760. PMID11694876.CS1 maint: Explicit use of et al. (link)
Stevanin G, Camuzat A, Holmes SE et al. (2002). "CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.". Neurology58 (6): 965–7. doi:10.1212/wnl.58.6.965. PMID11914418.CS1 maint: Explicit use of et al. (link)
Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet.36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.CS1 maint: Explicit use of et al. (link)
Grimsby S, Jaensson H, Dubrovska A et al. (2005). "Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity.". FEBS Lett.577 (1-2): 93–100. doi:10.1016/j.febslet.2004.09.069. PMID15527767.CS1 maint: Explicit use of et al. (link)