FARS2

Chr 6AR

phenylalanyl-tRNA synthetase 2, mitochondrial

Also known as: COXPD14, FARS1, HSPC320, PheRS, SPG77, mtPheRS

NCBI Gene: 10667 ENSG00000145982 UniProt: O95363 OMIM: 611592

The protein charges mitochondrial tRNA with phenylalanine, which is essential for mitochondrial protein synthesis. Autosomal recessive mutations cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy) and spastic paraplegia 77 through impaired mitochondrial translation. The pathogenic mechanism involves defective aminoacylation of mitochondrial tRNA(Phe), leading to respiratory chain dysfunction.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Combined oxidative phosphorylation deficiency 14MIM #614946

Spastic paraplegia 77, autosomal recessiveMIM #617046

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.15

LOEUF

LOF

Mechanism· G2P

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GeneReview available — FARS2