phenylalanyl-tRNA synthetase 2, mitochondrial
Alias
COXPD14 | FARS1 | HSPC320 | PheRS | SPG77
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].