靶标:
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 that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene.