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-tRNAsynthetases. 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 share a bidirectional promoter.
Medical significance
Pathogenic mutations in HARS2 are the cause of type 2 perrault syndrome (PRLTS2), which is associated with deafness, and in 46XX individuals, a failure of the ovaries to develop (leading to streak gonads).
Tsui HW, Mok S, de Souza L, etal. (1993). "Transcriptional analyses of the gene region that encodes human histidyl-tRNA synthetase: identification of a novel bidirectional regulatory element". Gene. 131 (2): 201–8. doi:10.1016/0378-1119(93)90294-D. PMID8406012.
