IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PRKAR1A
Definition : Molecular assay reagents intended to identify mutations in the protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A) gene, located at chromosome 17q23-q24, which encodes for a regulatory subunit of protein kinase A (PKA). PKA is activated by the second messenger cAMP and has a variety of important functions. This genetic mutation has been identified in patients with familial myxoma (Carney complex type 1, CNC1).
Entry Terms : "Carney Complex (CNC) Gene Mutation Reagents" , "Familial Myxoma Gene Mutation Reagents" , "PRKAR1A Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PRKAR1A"
UMDC code : 24917