Asparagine–tRNA ligase, cytoplasmic
Enzyme found in humans
From Wikipedia, the free encyclopedia
Asparagine-tRNA ligase, cytoplasmic is an enzyme that in humans is encoded by the NARS1 gene.[5][6][7]
| NARS1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | NARS1, NARS, NEDMILG, NEDMILEG, ASNRS, asparaginyl-tRNA synthetase 1, asparaginyl-tRNA synthetase | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 108410; MGI: 1917473; GeneCards: NARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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The NARS1 protein is an example of a Aminoacyl-tRNA synthetase, which are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II-b family of tRNA synthetases along with Aspartyl-tRNA synthetase and Lysyl-tRNA synthetase II. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases.[7]
Medical significance
A particular heterozygous nonsense mutation in NARS1 is associated with a brain development disorder called neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), potentially due to toxic gain-of-function.[8] More diverse pathogenic homozygous and compound heterozygous are also associated with a syndrome with many similar symptoms called neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG)[9]
