基因名:
HARS1
产品别名:
CMT2W; HARS; HRS; USH3B; HARS1; histidyl-tRNA synthetase 1; histidyl-tRNA synthetase 1; histidine--tRNA ligase, cytoplasmic; HisRS; Jo-1 antigen; histidine translase; 组氨酸tRNA连接酶;
背景信息:
Aminoacyl-tRNA synthetases are a class of enzymes thatcharge tRNAs with their cognate amino acids. The protein encoded bythis gene is a cytoplasmic enzyme which belongs to the class IIfamily of aminoacyl-tRNA synthetases. The enzyme is responsible forthe synthesis of histidyl-transfer RNA, which is essential for theincorporation of histidine into proteins. The gene is located in ahead-to-head orientation with HARSL on chromosome five, where thehomologous genes share a bidirectional promoter. The gene productis a frequent target of autoantibodies in the human autoimmunedisease polymyositis/dermatomyositis. Several transcript variantsencoding different isoforms have been found for this gene.