PHKB-SCN8A Fusion FISH Probe
The PHKB-SCN8A Fusion FISH Probe is used to confirm a fusion of the PHKB and SCN8A genes. The fusion of the PHKB and SCN8A 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.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PHKB-SCN8A-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-RERE | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-REOR | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-REGO | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-REGR | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-REAQ | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-ORRE | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-OROR | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-ORGO | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-ORAQ | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GORE | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GOOR | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GOGO | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GOGR | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GOAQ | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GRRE | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GROR | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GRGO | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GRGR | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-GRAQ | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-AQRE | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-AQOR | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-AQGO | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-AQGR | 20 (40 μL) | 200 μL |
|
|
| PHKB-SCN8A-20-AQAQ | 20 (40 μL) | 200 μL |
|
PHKB Gene Summary
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
Gene Name: Phosphorylase Kinase Regulatory Subunit Beta
Chromosome: CHR16: 47495209 -47735434
Locus: 16q12.1
SCN8A Gene Summary
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Name: Sodium Voltage-gated Channel Alpha Subunit 8
Chromosome: CHR12: 51985019 -52202299
Locus: 12q13.13
Gene Diseases
The PHKB SCN8A Fusion has been associated with the following diseases:
| Disease Name |
|---|
| Sarcoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
|---|