HARS1 - histidyl-tRNA synthetase 1 Gene

种属: Homo sapiens (human)

同用名: HRS; HARS; CMT2W; USH3B

关于 HARS1

功能概要

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]