HARS2
Function
Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP).
Involvement in disease
Perrault syndrome 2
PRLTS2
A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-II aminoacyl-tRNA synthetase family.
Tissue Specificity
A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver.
Cellular localization
- Mitochondrion
Alternative names
HARSL, HARSR, HO3, HARS2, Histidine--tRNA ligase-like, Histidyl-tRNA synthetase, HisRS