DARS gene

aspartyl-tRNA synthetase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

From UniProt:

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.

From NCBI Gene:

  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity

From UniProt:

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 mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord. [MIM:615281]

Cytogenetic Location: 2q21.3, which is the long (q) arm of chromosome 2 at position 21.3

Molecular Location: base pairs 135,905,881 to 135,986,046 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q21.3, which is the long (q) arm of chromosome 2 at position 21.3
  • aspRS
  • HBSL