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Mar 30, 2025 · MT-TA (Mitochondrially Encoded TRNA-Ala (GCN)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TA include Mitochondrial Myopathy and Mitochondrial Disease. Cas9 Proteins, Cas9 Nuclease Vector/Virus, Cas9-Expressing Cell Lines also available.

MT-TA is a small 69 nucleotide RNA (human mitochondrial map position 5587-5655) that transfers the amino acid alanine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.

A myopathic clinical presentation has been reported in two patients with muscle weakness who were found to be carriers of the m.5631G>A and m.5610G>A mutations in the MT-TA gene . Mt-tRNA defects manifested also with a CPEO phenotype, and …

Oct 10, 2023 · Title: Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy. provides evidence toward the pathogenicity of the m.8348A>G mutation and suggest that m.5628T>C is probably a neutral polymorphism.

Dec 10, 2024 · Pathogenic mitochondrial mt-tRNA (Ala) variants are uniquely associated with isolated myopathy. Acquisition of the wobble modification in mitochondrial tRNALeu (CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.

Apr 7, 2006 · In a 47-year-old man with a mitochondrial myopathy, Swalwell et al. (2006) identified a heteroplasmic 5591G-A transition in the MTTA gene. The phenotype was characterized by proximal muscle weakness, myalgia, and increased serum creatine kinase.

Nov 1, 2018 · The 240 bp PCR product comprised both of the entire mt-tRNA Trp gene (MT-TW) and of the entire mt-tRNA Ala gene (MT-TA), corresponding to the mitochondrial genome at nucleotide position 5512–5579 and 5587–5655, respectively, and part of their flanking genes: NADH-dehydrogenase, subunit 2, complex 1 (MT-ND2) and non-coding nucleotides region ...

Mt tRNA A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.html Ensembl Canonical , A subset of the GENCODE transcript set ...

MT-TA (mitochondrially encoded tRNA alanine) LOVD v.3.0 Build 21 [ Current LOVD status] Register as submitter | Log in