B4GALT5-GNAS Fusion FISH Probe
The B4GALT5-GNAS Fusion FISH Probe is used to confirm a fusion of the B4GALT5 and GNAS genes. The fusion of the B4GALT5 and GNAS genes has been associated with Breast Invasive Carcinoma. 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.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
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| B4GALT5-GNAS-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-RERE | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-REOR | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-REGO | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-REGR | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-REAQ | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-ORRE | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-OROR | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-ORGO | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-ORAQ | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GORE | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GOOR | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GOGO | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GOGR | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GOAQ | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GRRE | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GROR | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GRGO | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GRGR | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-GRAQ | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-AQRE | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-AQOR | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-AQGO | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-AQGR | 20 (40 μL) | 200 μL |
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| B4GALT5-GNAS-20-AQAQ | 20 (40 μL) | 200 μL |
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GNAS Gene Summary
This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
Gene Name: GNAS Complex Locus
Chromosome: CHR20: 57414794 -57486250
Locus: 20q13.32
B4GALT5 Gene Summary
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
Gene Name: Beta-1,4-galactosyltransferase 5
Chromosome: CHR20: 48249482 -48330421
Locus: 20q13.13
Gene Diseases
The B4GALT5 GNAS Fusion has been associated with the following diseases:
| Disease Name |
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| Breast Invasive Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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