Analysis of PRKAR1A Gene Rearrangement by Southern Blot Technology (CAT#: STEM-MHT-0036-LGZ)

Introduction

Official Full Name: protein kinase cAMP-dependent type I regulatory subunit alpha
Also known as: CAR; CNC; CNC1; PKR1; TSE1; ADOHR; PPNAD1; PRKAR1; ACRDYS1
cAMP is a signaling molecule that plays an important role in various cellular functions. cAMP acts by activating cAMP-dependent protein kinases that transduce signals by phosphorylating various target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP dissociates the inactive holoenzyme into a dimer consisting of four cAMPs and two free monomeric catalytic subunits. Four distinct regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. The protein was found to be a tissue-specific fire suppressant that downregulated the expression of seven liver genes in HCC-fibroblast hybrids. Mutations in this gene cause the Carney complex (CNC). The gene can be fused with the RET proto-oncogene through gene rearrangement to form a thyroid tumor-specific chimeric oncogene PTC2. An unconventional nuclear localization sequence (NLS) of the protein suggests a role in DNA replication as a nuclear transporter for the second subunit of replication factor C (RFC40). Some alternatively spliced transcript variants encoding two different isoforms have been observed.