FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
Gene ID: 10667, updated on 3-Apr-2024Gene type: protein coding
Also known as: FARS1; PheRS; SPG77; COXPD14; HSPC320; mtPheRS
- See all available tests in GTR for this gene
- Go to complete Gene record for FARS2
- Go to Variation Viewer for FARS2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation defect type 14 | See labs |
| Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. GeneReviews: Not available | |
| Hereditary spastic paraplegia 77 | See labs |
| Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. GeneReviews: Not available |
Genomic context
- Location:
- 6p25.1
- Sequence:
- Chromosome: 6; NC_000006.12 (5249934..5771583)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FARS2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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