Phenylalanyl-tRNA synthetase, mitochondrial (FARS2) is an enzyme that in humans is encoded by the FARS2 gene.[5] This protein encoded by FARS2 localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 14, also known as Alpers encephalopathy, as well as spastic paraplegia 77 and infantile-onset epilepsy and cytochrome c oxidase deficiency.[6][7]
^ abcGRCh38: Ensembl release 89: ENSG00000145982 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000021420 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Bullard JM, Cai YC, Demeler B, Spremulli LL (May 1999). "Expression and characterization of a human mitochondrial phenylalanyl-tRNA synthetase". Journal of Molecular Biology. 288 (4): 567–77. doi:10.1006/jmbi.1999.2708. PMID 10329163.
^"Entrez Gene: FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial". This article incorporates text from this source, which is in the public domain.
^Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM (January 2014). "Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1842 (1): 56–64. doi:10.1016/j.bbadis.2013.10.008. PMC 3898479. PMID 24161539.
synthetase, mitochondrial (FARS2) is an enzyme that in humans is encoded by the FARS2 gene. This protein encoded by FARS2 localizes to the mitochondrion...
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