For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 16; NC_000016.9 (87636499..87731762). Location: 16q24.3

Store all reagents at 2-8 degree C

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Small volumes of JPH3 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9313331 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Junctophilin 3 (JPH3) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing JPH3. The ELISA analytical biochemical technique of the MBS9313331 kit is based on JPH3 antibody-JPH3 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect JPH3 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, JPH3. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

81,469 Da

junctophilin 3

junctophilin-3; junctophilin type 3; trinucleotide repeat containing 22

Junctophilin-3

JP3; TNRC22; JP-3??[Similar Products]

JPH3_HUMAN

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 ***** 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: Membrane protein, integral; Endoplasmic reticulum

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

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