The PRKACB gene is located on chromosome 1 at the band 1p31.1 and spans approximately 160,000 base pairs . The gene produces multiple transcript variants through alternative splicing, resulting in different isoforms of the protein . The protein itself is a catalytic subunit of the cAMP-dependent protein kinase (PKA), which is a tetramer composed of two regulatory and two catalytic subunits .
The primary function of PRKACB is to mediate the effects of cAMP within the cell. cAMP is a signaling molecule that activates PKA by binding to its regulatory subunits, causing the release of the active catalytic subunits . These catalytic subunits then phosphorylate various target proteins, leading to changes in their activity, localization, or interaction with other proteins .
PRKACB is involved in numerous cellular processes, including:
Mutations or dysregulation of PRKACB can lead to various diseases. For instance, alterations in cAMP signaling pathways have been implicated in cancer, cardiovascular diseases, and neurological disorders . Understanding the role of PRKACB in these pathways can provide insights into potential therapeutic targets for these conditions .
Recombinant human PRKACB is widely used in research to study its function and regulation. It is also used in drug discovery to screen for compounds that can modulate its activity . The availability of recombinant PRKACB allows for detailed biochemical and structural studies, which are essential for developing targeted therapies .