IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MT-ATP6
Definition : Molecular assay reagents intended to identify mutations in the mitochondrially encoded ATP synthase 6 (MT-ATP6) gene, located in the mitochondrial genome, which encodes for a protein that is essential for normal mitochondrial function. Mutations at this locus have been identified in patients with mitochondrial disorders, including mitochondrial DNA associated Leigh syndrome; neurogenic muscle weakness; ataxia; and neuropathy, ataxia, and retinitis pigmentosa (NARP).
Entry Terms : "DNA-Leigh Syndrome Gene Mutation Reagents" , "Leigh Syndrome Gene Mutation Reagents" , "Neurogenic Muscle Weakness/Ataxia/Retinitis Pigmentosa (NARP) Gene Mutation Reagents" , "Leigh-Like Disease Gene Mutation Reagents" , "MT-ATP6 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MT-ATP6"
UMDC code : 24616