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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.

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

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

Customer Publications

There are currently no FISH related publications for this probe.