Phenylalanyl Trna Synthetase 2, Mitochondrial (FARS2) Antibody – Rabbit Polyclonal

This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

FARS2: Catalyzes direct attachment of p-Tyr (Tyr) to tRNAPhe. Permits also, with a lower efficiency, the attachment of m-Tyr to tRNAPhe, thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins. Belongs to the class-II aminoacyl-tRNA synthetase family.

Protein type: Aminoacyl-tRNA synthetase; EC 6.1.1.20; Ligase; Mitochondrial; RNA-binding; Translation; Translation regulation

Chromosomal Location of Human Ortholog: 6p25.1

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: ATP binding; phenylalanine-tRNA ligase activity; protein binding; tRNA binding

Biological Process: phenylalanyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; tRNA processing

Disease: Combined Oxidative Phosphorylation Deficiency 14; Spastic Paraplegia 77, Autosomal Recessive