phenylalanine--tRNA ligase, mitochondrial isoform 1 [Homo sapiens]

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Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease. [Mol Genet Metab. 2023]
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Chen W, Rehsi P, Thompson K, Yeo M, Stals K, He L, Schimmel P, Chrzanowska-Lightowlers ZMA, Wakeling E, Taylor RW, et al. Mol Genet Metab. 2023 Nov; 140(3):107657. Epub 2023 Jul 24.
Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2. [Eur J Med Res. 2022]
Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.
Li L, Ma J, Wang J, Dong L, Liu S. Eur J Med Res. 2022 Sep 26; 27(1):184. Epub 2022 Sep 26.
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. [Eur J Hum Genet. 2021]
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Barcia G, Rio M, Assouline Z, Zangarelli C, Roux CJ, de Lonlay P, Steffann J, Desguerre I, Munnich A, Bonnefont JP, et al. Eur J Hum Genet. 2021 Mar; 29(3):533-538. Epub 2020 Nov 9.

RefSeq genomic sequence
See the genomic reference sequence for the FARS2 gene (NG_033003.3).
RefSeq mRNA
See reference mRNA sequence for the FARS2 gene (NM_001374875.1).
RefSeq protein isoforms
See 25 reference sequence protein isoforms for the FARS2 gene.

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