Tryptophan–tRNA ligase, mitochondrial, also called Tryptophanyl-tRNA synthetase 2, is an enzyme that in humans is encoded by the WARS2 gene. Like the related enzyme, tryptophan–tRNA ligase, cytoplasmic, this enzyme functions as a tryptophan–tRNA ligase.
Function
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described.
Medical significance According to recent research, mutations in WARS2 are believed to express two different neurological disorders: A subtype of autosomal recessive intellectual disability and a syndrome of severe infantile‐onset leukoencephalopathy. These disorders have been called Parkinsonism-dystonia 3, childhood-onset (PKDYS3) and Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS).
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