VARS1

Valyl-tRNA synthetase 1 is an enzyme that in humans is encoded by the VARS1 gene (previously VARS). Like VARS2, this enzyme functions as a valine–tRNA ligase.

Function

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex.

Medical significance Pathogenic (homozygous or compound heterozygous) mutations in VARS1 are associated with an unusually small head and brain (microcephaly) and developmental delay, called neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA).

See also Valine-tRNA ligase

References

Further reading