Gene Symbol | IARS1 |
Entrez Gene ID | 3376 |
Full Name | isoleucyl-tRNA synthetase |
Synonyms | GRIDHH,IARS1,ILERS,ILRS,IRS,PRO0785 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]. |
Disorder MIM: | |
Disorder Html: | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3) |