rs201591441
This variant is located in the NARS2 gene.
▶ClinVar annotation
not specified; not provided; NARS2-related disorder; Intellectual disability
View on ClinVar →About NARS2
This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]
View all NARS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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