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PLEC-JPH1 Fusion FISH Probe

The PLEC-JPH1 Fusion FISH Probe is used to confirm a fusion of the PLEC and JPH1 genes. The fusion of the PLEC and JPH1 genes has been associated with Sarcoma. These probes are FISH confirmed on normal peripheral blood in both interphase nuclei and metaphase spreads before shipment. Typical turnaround time for this product is 7-14 days after purchase.

** This product is for in vitro and research use only. This product is not intended for diagnostic use. Please note that both genes fall on the same chromosome and inter-chromosomal detection may be difficult to detect depending on the genes proximity to one another. Please consult our support staff before ordering this product to ensure that the probe can be designed to meet your specific needs.

Turnaround Time: 7-10 Business Days    Shipping Time: 1-2 Day Expedited Shipping

SKU Test Kits Buffer Dye Color Order Now
PLEC-JPH1-20-ORGR  (Standard Design) 20 (40 μL) 200 μL
PLEC-JPH1-20-RERE 20 (40 μL) 200 μL
PLEC-JPH1-20-REOR 20 (40 μL) 200 μL
PLEC-JPH1-20-REGO 20 (40 μL) 200 μL
PLEC-JPH1-20-REGR 20 (40 μL) 200 μL
PLEC-JPH1-20-REAQ 20 (40 μL) 200 μL
PLEC-JPH1-20-ORRE 20 (40 μL) 200 μL
PLEC-JPH1-20-OROR 20 (40 μL) 200 μL
PLEC-JPH1-20-ORGO 20 (40 μL) 200 μL
PLEC-JPH1-20-ORAQ 20 (40 μL) 200 μL
PLEC-JPH1-20-GORE 20 (40 μL) 200 μL
PLEC-JPH1-20-GOOR 20 (40 μL) 200 μL
PLEC-JPH1-20-GOGO 20 (40 μL) 200 μL
PLEC-JPH1-20-GOGR 20 (40 μL) 200 μL
PLEC-JPH1-20-GOAQ 20 (40 μL) 200 μL
PLEC-JPH1-20-GRRE 20 (40 μL) 200 μL
PLEC-JPH1-20-GROR 20 (40 μL) 200 μL
PLEC-JPH1-20-GRGO 20 (40 μL) 200 μL
PLEC-JPH1-20-GRGR 20 (40 μL) 200 μL
PLEC-JPH1-20-GRAQ 20 (40 μL) 200 μL
PLEC-JPH1-20-AQRE 20 (40 μL) 200 μL
PLEC-JPH1-20-AQOR 20 (40 μL) 200 μL
PLEC-JPH1-20-AQGO 20 (40 μL) 200 μL
PLEC-JPH1-20-AQGR 20 (40 μL) 200 μL
PLEC-JPH1-20-AQAQ 20 (40 μL) 200 μL

PLEC Gene Summary

Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]

Gene Name: Plectin

Chromosome: CHR8: 144989320 -145050913

Locus: 8q24.3

JPH1 Gene Summary

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. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]

Gene Name: Junctophilin 1

Chromosome: CHR8: 75146938 -75233562

Locus: 8q21.11

Gene Diseases

The PLEC JPH1 Fusion has been associated with the following diseases:

Disease Name
Sarcoma

FISH Probe Protocols

Protocol, Procedure, or Form Name Last Modified Download

Customer Publications

There are currently no FISH related publications for this probe.