DARS1
Function
Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
Involvement in disease
Hypomyelination with brainstem and spinal cord involvement and leg spasticity
HBSL
An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild intellectual disability. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-II aminoacyl-tRNA synthetase family. Type 2 subfamily.
Tissue Specificity
Expression in the developing and adult brain shows similar patterns. Highly expressed in the ventricular and subventricular zones, including hippocampal subfields, the midlateral temporal cortex and the frontal polar cortex. The cerebellum, cerebral cortex, hippocampus, and lateral ventricle show preferential neuronal expression. Expression in the peripheral neurons is evident in the colon.
Cellular localization
- Cytoplasm
- Cytosol
Alternative names
DARS, PIG40, DARS1, Aspartyl-tRNA synthetase, Cell proliferation-inducing gene 40 protein, AspRS