VARS2


Description

The VARS2 (valyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene located on chromosome 6.

The VARS2 gene encodes a mitochondrial aminoacyl-tRNA synthetase responsible for attaching valine to tRNA(Val) during mitochondrial translation. Mutations in VARS2 can lead to combined oxidative phosphorylation deficiency-20 and early-onset mitochondrial encephalopathies. Alternative splicing of the gene produces multiple transcript variants.

VARS2 catalyzes the attachment of valine to tRNA(Val) in a two-step process. First, valine is activated by ATP to form Val-AMP. Then, Val-AMP is transferred to the acceptor end of tRNA(Val).

VARS2 is also known as COXPD20, VALRS, VARS2L, VARSL.

Associated Diseases


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