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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: EC 6.1.1.21; HARS-related; HisRS; histidine translase; histidine tRNA ligase 2, mitochondrial (putative); Histidine--tRNA ligase, mitochondrial; Histidine--tRNA ligase-like; histidine-tRNA ligase homolog; Histidyl-tRNA synthetase; histidyl-tRNA synthetase 2; histidyl-tRNA synthetase 2, mitochondrial (putative); probable histidyl-tRNA synthetase, mitochondrial
基因别名: HARS2; HARSL; HARSR; HO3; PRLTS2
UniProt ID: (Human) P49590
Entrez Gene ID: (Human) 23438