靶标:
HARS2
产品别名:
HARSL; HARSR; HO3; HisRS; PRLTS2; HARS2; histidyl-tRNA synthetase 2, mitochondrial; histidyl-tRNA synthetase 2, mitochondrial; histidine--tRNA ligase, mitochondrial; HARS-related; histidine tRNA ligase 2, mitochondrial (putative); histidine translase; histidine-tRNA ligase homolog; histidyl-tRNA synthetase 2, mitochondrial (putative); histidyl-tRNA synthetase 2, mitochondrial, hisRS; probable histidine--tRNA ligase, mitochondrial; probable histidyl-tRNA synthetase, mitochondrial;
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 an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene.