rs565224393
This variant is located in the NARS2 gene.
▶ClinVar annotation
Combined oxidative phosphorylation defect type 24; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Mutation spectrum ofMYO7Aand evaluation of a novel nonsyndromic deafnessDFNB2allele with residual functionCase reportSaima Riazuddin et al.(2008)· Human Mutation
This study identifies mutations in NARS2 (mitochondrial asparaginyl-tRNA synthetase) as causative for nonsyndromic deafness (DFNB94) and Leigh syndrome. A homozygous missense mutation c.637G>T; p.Val213Phe causes nonsyndromic hearing loss, while compound heterozygous mutations c.969T>A; p.Tyr323* and c.1142A>G; p.Asn381Ser cause mitochondrial respiratory chain deficiency and Leigh syndrome characterized by basal ganglia lesions. Functional studies show decreased mt-tRNA Asn levels and impaired oxidative phosphorylation in patient cells that can be rescued by wild-type NARS2 overexpression.
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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