FARS2 gene

phenylalanyl-tRNA synthetase 2, mitochondrial

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 14
  • Spastic paraplegia 77, autosomal recessive

From UniProt:

Combined oxidative phosphorylation deficiency 14 (COXPD14): A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. [MIM:614946]

Cytogenetic Location: 6p25.1, which is the short (p) arm of chromosome 6 at position 25.1

Molecular Location: base pairs 5,261,001 to 5,771,592 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p25.1, which is the short (p) arm of chromosome 6 at position 25.1
  • COXPD14
  • FARS1
  • HSPC320
  • PheRS
  • SPG77