> Reagents, Molecular Assay, Gene Anomaly, Mutation, MT-TL1
Reagents, Molecular Assay, Gene Anomaly, Mutation, MT-TL1
Definition : Molecular assay reagents intended to identify mutations in the mitochondrially encoded tRNA leucine 1 (UUA/G) (MTTL1) gene, located in the mitochondrial genome, which encodes for a specific form of transfer RNA, tRNA Leu, that attaches to the amino acid leucine (Leu) and inserts it into the appropriate locations in many different proteins during translation. Mutations at this locus have been identified in patients with mitochondrial disorders, including a disease characterized by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). The entry terms include deafness and hearing loss.
Entry Terms : "Hearing Loss Gene Mutation Reagents" , "Cardiomyopathy Gene Mutation Reagents" , "Pigmentary Retinopathy Gene Mutation Reagents" , "Mitochondrial Encephalomyopathy/Lactic Acidosis/Stroke-Like Episodes (MELAS) Gene Mutation Reagents" , "Mitochondrial Disorder Gene Mutation Reagents" , "Deafness Gene Mutation Reagents" , "MT-TL1 Gene Mutation Detection Reagents"
UMDC code : 24628
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