Gene: FARS2

Alternate names for this Gene: COXPD14|FARS1|HSPC320|PheRS|SPG77|mtPheRS

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p25.1

Description of this Gene: phenylalanyl-tRNA synthetase 2, mitochondrial

Type of Gene: protein-coding

rs1298860043 in FARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 PMID 27652284 2016 Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

PMID 27095821 2016 Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.

PMID 22499341 2012 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

PMID 22833457 2012 Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

PMID 30177229 2018 FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

PMID 28043061 2017 FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.

PMID 29126765 2017 New insights into the phenotype of FARS2 deficiency.

PMID 24161539 2014 Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

rs433295 in FARS2 gene and Glaucoma, Open-Angle PMID 27001270 2016 Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.

rs11243033 in FARS2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs9328321 in FARS2 gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs145555213 in FARS2 gene and SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE PMID 26553276 2016 A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.

PMID 29126765 2017 New insights into the phenotype of FARS2 deficiency.

PMID 25851414 2015 Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.