IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, RPS6KA3
Definition : Molecular assay reagents intended to identify mutations in the ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3) gene, located at chromosome Xp22.13, which encodes for ribosomal protein S6 kinase 2 that helps regulate the activity of other genes and signaling within the cell. These proteins are involved in cell proliferation, differentiation, and apoptosis. These genetic mutations have been identified in patients with X-linked inherited Coffin-Lowry syndrome.
Entry Terms : "Coffin-Lowry Syndrome Gene Mutation Reagents" , "RPS6KA3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, RPS6KA3"
UMDC code : 24944