QARS1
Function
Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866).
Involvement in disease
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
MSCCA
A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-I aminoacyl-tRNA synthetase family.
Tissue Specificity
Highly expressed in fetal cerebral cortex, particularly in the ventricular zone, inner subventricular zone, outer subventricular zone, and cortical plate.
Cellular localization
- Cytoplasm
- Cytosol
- Cytoplasm
Alternative names
QARS, QARS1, Glutamine--tRNA ligase, Glutaminyl-tRNA synthetase, GlnRS