Histidyl-tRNA synthetase 2, mitochondrial (HARS2)

Histidyl-tRNA synthetase 2, mitochondrial (HARS2), is an enzyme that catalyzes the ATP-dependent ligation of the amino acid histidine to its cognate tRNA (tRNA^His) within mitochondria[1][2][3][5]. This reaction is essential for mitochondrial protein synthesis, which, in turn, is critical for mitochondrial function and thus cellular energy production. HARS2 belongs to the class II family of aminoacyl-tRNA synthetases and is highly conserved among eukaryotes[1][4][5]. Human HARS2 gene mutations are associated with Perrault syndrome, a rare inherited disorder marked by sensorineural hearing loss in both sexes and ovarian dysgenesis in females[1][2][5]. Genetic testing for HARS2 is available and mutations serve as diagnostic biomarkers for Perrault syndrome[1][2]. No small molecule, biologic, or gene therapies targeting HARS2 are currently clinically available or in advanced development.

Other names

HARS2HARSLHARSRHO3PRLTS2HisRShistidyl-tRNA synthetase 2, mitochondrial (putative)histidine tRNA ligase 2, mitochondrial (putative)histidine-tRNA ligase homologprobable histidine--tRNA ligase, mitochondrialprobable histidyl-tRNA synthetase, mitochondrialhistidine translase

Not applicable (no current drugs approved to target HARS2) In theory, enzyme inhibitors or gene therapies could modulate function but none established