Aliases for HARS2 Gene
External Ids for HARS2 Gene
Previous HGNC Symbols for HARS2 Gene
Previous GeneCards Identifiers for HARS2 Gene
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. [provided by RefSeq, Jul 2013]
GeneCards Summary for HARS2 Gene
HARS2 (Histidyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with HARS2 include Perrault Syndrome 2 and Perrault Syndrome. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include aminoacyl-tRNA ligase activity. An important paralog of this gene is HARS1.