JPH3 Antibody – Rabbit Polyclonal

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]

JPH3: 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. Defects in JPH3 are the cause of Huntington disease-like type 2 (HDL2). Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life. Belongs to the junctophilin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Endoplasmic reticulum; Membrane protein, integral

Chromosomal Location of Human Ortholog: 16q24.3

Cellular Component: junctional membrane complex; integral to membrane; plasma membrane

Molecular Function: calcium-release channel activity

Biological Process: learning; locomotion; neuromuscular process controlling balance; memory; regulation of neuronal synaptic plasticity

Disease: Huntington Disease-like 2