HARS1
Description
The HARS1 (histidyl-tRNA synthetase 1) is a protein-coding gene located on chromosome 5.
HARS1, also known as histidine-tRNA ligase, is an enzyme responsible for attaching histidine to its corresponding tRNA molecule. This process is essential for the incorporation of histidine into proteins. HARS1 is located in the cytoplasm of cells and belongs to a group of enzymes called aminoacyl-tRNA synthetases. The gene encoding HARS1 is located on chromosome 5, adjacent to another gene called HARSL, and they share a common promoter. HARS1 is frequently targeted by antibodies in the autoimmune disease polymyositis/dermatomyositis.
HARS1 is also known as CMT2W, HARS, HRS, USH3B.
Associated Diseases
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Charcot-Marie-Tooth disease, axonal, type 2W
- Usher syndrome, type IIIB
- Usher syndrome type 3
