| Gene Symbol | HARS1 |
| Entrez Gene ID | 3035 |
| Full Name | histidyl-tRNA synthetase |
| Synonyms | CMT2W,HRS,USH3B |
| General protein information |
|
| 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. 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. [provided by RefSeq, Apr 2012]. |
| Disorder MIM: | |
| Disorder Html: | Usher syndrome type 3B, 614504 (3); Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3) |
User Manual