VARS1
Function
Catalyzes the attachment of valine to tRNA(Val).
Involvement in disease
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
NDMSCA
An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-I aminoacyl-tRNA synthetase family.
Alternative names
G7A, VARS, VARS2, VARS1, Valine--tRNA ligase, Protein G7a, Valyl-tRNA synthetase, ValRS