Gene Symbol | KARS1 |
Entrez Gene ID | 3735 |
Full Name | lysyl-tRNA synthetase |
Synonyms | CMTRIB,DFNB89,KARS1,KARS2,KRS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3); Deafness, autosomal recessive 89, 613916 (3) |