Methionine–tRNA ligase, cytoplasmic, also called methionyl-tRNA synthetase 1, is an enzyme that in humans is encoded by the MARS1 gene (formally MARS). Like to the related enzyme, MARS2, this enzyme function as a Methionine–tRNA ligase. This means it attaches the amino acid methionine to the corresponding transfer RNA (tRNAMet) which is a preparation step for RNA-to-protein translation.
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene belongs to the class I family of tRNA synthetases.
Medical significance Pathogenic mutations in MARS1 have been associated with associated with a variety of illnesses. Heterozygous (loss-of-function) mutations have been associated with a form of Charcot-Marie-Tooth disease type 2U (CMT2U), while homozygous or compound heterozygous mutations have been associated with either Interstitial lung and liver disease (ILLD) or autosomal recessive spastic paraplegia-70 (SPG70).
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