8P8X

Crystal structure of a pathogenic mutant variant of human mitochodnrial PheRS

Summary for 8P8X

Entry DOI	10.2210/pdb8p8x/pdb
Descriptor	Phenylalanine--tRNA ligase, mitochondrial, PHENYLALANINE (3 entities in total)
Functional Keywords	phenylalanyl-trna synthetase, fars2, mitochondria, mitochondrial disease, class ii aminoacyl-trna ligase, alpha-beta domain, atp binding, amino acid binding, ligase
Biological source	Homo sapiens (human)
Total number of polymer chains	1
Total formula weight	48579.09
Authors	Chen, W.,Kuhle, B. (deposition date: 2023-06-03, release date: 2023-08-16)
Primary citation	Chen, W.,Rehsi, P.,Thompson, K.,Yeo, M.,Stals, K.,He, L.,Schimmel, P.,Chrzanowska-Lightowlers, Z.M.A.,Wakeling, E.,Taylor, R.W.,Kuhle, B. Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease. Mol.Genet.Metab., 140:107657-107657, 2023 Cited by PubMed: 37523899 DOI: 10.1016/j.ymgme.2023.107657 PDB entries with the same primary citation
Experimental method	X-RAY DIFFRACTION (1.46 Å)

Structure validation