IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Deletion, Mitochondrial, MT-PEO1
Definition : Molecular assay reagents intended to identify mitochondrial deletions in the progressive external ophthalmoplegia 1 (PEO1) gene, located in 10q23.3-24.3, that is involved in mitochondrial DNA (mtDNA) metabolism. The gene could function as an adenine nucleotide-dependent DNA helicase; its function is considered critical for lifetime maintenance of mtDNA integrity. Maternally inherited genetic mitochondrial deletions are usually confined to the skeletal muscles of patients with PEO1.
Entry Terms : "Mitochondrial DNA (mtDNA) Deletion Syndrome Diagnostic Reagents" , "Progressive External Ophthalmoplegia (PEO) Diagnostic Reagents" , "MT-PEO1 Gene Deletion Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Deletion, Mitochondrial, MT-PEO1"
UMDC code : 24184