Recombinant Human Probable histidine–tRNA ligase, mitochondrial (HARS2)

Uniprot Id

P49590

Target Species

Human

Target Name

HARS2

Target Full Name

Histidine--tRNA ligase, mitochondrial

Target 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).

Target Involvement

Perrault syndrome 2 (PRLTS2)

Target Subcellular Location

Mitochondrion.

Target Protein Families

Class-II aminoacyl-tRNA synthetase family

Target 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.

Target Research Area

Metabolism

Target Synonyms

4631412B19Rik; AI593507; HARS related; Hars2; HARSL; HARSR; HisRS; Histidine translase; Histidine tRNA ligase; Histidine tRNA ligase homolog; Histidine tRNA ligase like; Histidine--tRNA ligase; Histidine--tRNA ligase-like; Histidyl tRNA synthetase 2; Histidyl tRNA synthetase 2 mitochondrial; Histidyl tRNA synthetase like; HO3; mitochondrial; Probable histidyl tRNA synthetase mitochondrial; Probable histidyl-tRNA synthetase; SYHM_HUMAN

Target Background

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.