Gene Symbol | NARS2 |
Entrez Gene ID | 79731 |
Full Name | asparaginyl-tRNA synthetase 2, mitochondrial |
Synonyms | DFNB94,SLM5,asnRS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Combined oxidative phosphorylation deficiency 24, 616239 (3) |