IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Trinucleotide Repeats, CAG, PPP2R2B Gene
Definition : Molecular assay reagents intended to identify CAG repeats in the protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform (PPP2R2B) gene, located at chromosome 5q31-q33. Normal alleles have from 7 to 28 CAG trinucleotide repeats.A variation from the expected number of normal CAG trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 66 to 78 CAG trinucleotide repeats have been associated with spinocerebellar ataxia type 12 (SCA12).
Entry Terms : "Spinocerebellar Ataxia type 12 (SCA12) Gene Mutation Reagents" , "Ataxia Gene Mutation Reagents" , "PPP2R2B Gene Mutation Detection Reagents, CAG Trinucleotide Repeats" , "Reagents, Molecular Assay, Gene Anomaly, Trinucleotide Repeats, CAG, PPP2R2B Gene"
UMDC code : 25028