The DNAJB1-PRKACA Fusion FISH Probe is used to confirm a fusion of the DNAJB1 and PRKACA genes. The fusion of the DNAJB1 and PRKACA genes has been associated with Fibrolamellar 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.

DNAJB1 Gene Summary

This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Gene Name: DnaJ Heat Shock Protein Family (Hsp40) Member B1

Chromosome: CHR19: 14625581 -14629201

Locus: 19p13.12

PRKACA Gene Summary

This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015]

Gene Name: Protein Kinase CAMP-activated Catalytic Subunit Alpha

Chromosome: CHR19: 14202506 -14228559

Locus: 19p13.12

Gene Diseases

The DNAJB1 PRKACA Fusion has been associated with the following diseases:

Disease Name
Fibrolamellar Carcinoma

References

DNAJB1-PRKACA fusions occur in oncocytic pancreatic and biliary neoplasms and are not specific for fibrolamellar hepatocellular carcinoma

A new DNAJB1-PRKACA fusion was recently discovered in fibrolamellar hepatocellular carcinoma (FHCC). This study sought to determine the specificity of this fusion for the disease through molecular and genetic analysis of six PRKACA-rearranged pancreatobiliary neoplasms. Empire Genomics’ PRKACA break apart FISH probe was used to detect PRKACA rearrangements in the tumors. Five cases were found to have DNAJB1-PRKACA fusions and one had ATP1B1-PRKACA fusion.