rs325007

This variant is located in the AARS2 gene.

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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not provided; Leukoencephalopathy, progressive, with ovarian failure; Combined oxidative phosphorylation defect type 8

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About AARS2

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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