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PKDYS3

Chr 1AR

tryptophanyl tRNA synthetase 2, mitochondrial

Also known as: NEMMLAS, PKDYS3, TrpRS, mtTrpRS

NCBI Gene: 10352 OMIM: 619738

Mitochondrial tryptophanyl-tRNA synthetase catalyzes the attachment of tryptophan to its cognate tRNA within mitochondria, essential for mitochondrial protein synthesis. Mutations cause childhood-onset parkinsonism-dystonia 3, an autosomal recessive movement disorder affecting the basal ganglia. The childhood onset reflects the critical role of mitochondrial function in developing neural circuits controlling movement.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

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. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…