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 …

2024年12月25日 · 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 …

2023年10月10日 · Title: Pathogenic mitochondrial mt-tRNA (Ala) variants are uniquely associated with isolated myopathy. provides evidence toward the pathogenicity of the m.8348A>G …

2006年4月7日 · In a 38-year-old patient with a novel type of mitochondrial myopathy, Horvath et al. (2003) identified a heteroplasmic mutation, 5650G-A, in the MTTA gene. The clinical …

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 . …

2024年12月10日 · Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Clinical resource with information about MT-TA, and available tests. There are links to practice …

View mt-Ta<m1Jbst> allele: origin, molecular description and human disease models, gene associations, and references.

Official gene name mitochondrially encoded tRNA alanine. Synonyms. trnA; MTTA; External resources. MIM:590000; HGNC:7475; ENSEMBL:ENSG00000210127

MT-TA pathogenic variants may cause developmental and epileptic encephalopathy without myopathy Am J Med Genet A . 2022 Oct;188(10):3135-3138. doi: 10.1002/ajmg.a.62925.

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 …