IVD Test Reagent/Kits, Molecular Assay, Gene Disorder, Trinucleotide Repeats, CTG, JPH3 Gene
Definition : Molecular assay reagents intended to identify CTG repeats in the junctophilin 3 (JPH3) gene, located at chromosome 16q24.3. Normal alleles have from 6 to 28 CAG/CTG trinucleotide repeats. A variation from the expected number of normal CAG/CTG trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 44 to 59 CAG/CTG trinucleotide repeats have been associated with Huntingdon's disease type 2 (HDL2); however, individuals with from 29 to 43 CAG/CTG repeats may not develop symptoms.
Entry Terms : "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Huntington Chorea" , "Huntington Disease-Like 2 (HDL2) Gene Mutation Reagents" , "JPH3 Gene Mutation Detection Reagents, CTG Trinucleotide Repeats" , "Reagents, Molecular Assay, Gene Disorder, Trinucleotide Repeats, CTG, JPH3 Gene"
UMDC code : 25039