GSD9A FISH Probe
The GSD9A FISH probe is designed to hybridize to the GSD9A gene and is primarily used for detecting amplifications and deletions associated with the gene. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe can be labeled in one of five colors. Each probe is sold in a 20 test kit (approximately 20 slides - 22x22 mm area) and includes hybridization buffer. Please note that due to design optimizations, prices are subject to change.
** 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 |
|---|---|---|---|---|
| PHKA2-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
|
| PHKA2-20-RE | 20 (40 μL) | 200 μL |  |
|
| PHKA2-20-GO | 20 (40 μL) | 200 μL |  |
|
| PHKA2-20-GR | 20 (40 μL) | 200 μL |  |
|
| PHKA2-20-AQ | 20 (40 μL) | 200 μL |  |
|
| PHKA2-20-DIG | 20 (40 μL) | 200 μL |  |
|
| PHKA2-20-BIO | 20 (40 μL) | 200 μL |  |
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, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
Gene Details
Gene Symbol: PHKA2
Gene Name: Phosphorylase Kinase Regulatory Subunit Alpha 2
Chromosome: CHRX: 18910415-19002480
Locus: Xp22.13
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
|---|
Customer Publications
Product Details
Product: GSD9A FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: PHKA2-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping