FARS2 Antibody

1. Based on the phenotypic data of previously reported subjects and the two subjects reported here, we conclude that FARS2 deficiency can be associated with two phenotypes: (i) an epileptic phenotype, and (ii) a spastic paraplegia phenotype. PMID: 29126765
2. in patients with drug-resistant infantile spasm syndrome, associated with focal seizures, mild metabolic changes, and cerebral atrophy with volume loss of white matter on MRI, mutations in FARS2 should be considered. PMID: 27549011
3. Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2 have been described. PMID: 28419689
4. A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia. PMID: 26553276
5. this study expands the phenotypic spectrum of FARS2 related disease and emphasizes intragenic deletion in the list of causative mutations. PMID: 25851414
6. the three FARS2 mutations directly impair aminoacylation function and stability of mtPheRS, leading to a decrease in overall tRNA charging capacity. PMID: 22833457
7. Two phenylalanyl-tRNA synthetase variants Ser57Cys and Asp280Ser both display wild-type aminoacylation activity and stability with respect to their free energies of unfolding, but are less stable at low hydrogen-ion concentration (pH). PMID: 21601574
8. The recombinant human enzyme has been purified to homogeneity and crystallized in complex with phenylalanine and ATP. PMID: 17768348
9. Formation of the PheRS-tRNAPhe complex in human mitochondria must be accompanied by considerable rearrangement of the anticodon binding domain upon tRNA binding. PMID: 18611382
10. Mitochondrial and cytoplasmic phenylalanyl-tRNA synthetases (HsmtPheRS and HsctPheRS, respectively) catalyze direct attachment of m-Tyr to tRNA(Phe). PMID: 19549855
11. these results indicate that conformational flexibility of the two functional modules in mtPheRS is essential for its phenylalanylation activity. PMID: 19737557

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HGNC: 21062

OMIM: 611592

KEGG: hsa:10667

STRING: 9606.ENSP00000274680

UniGene: Hs.484547