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Details of DARS2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| DARS2 | --- | Q6PI48 | SYDM_HUMAN | 55157
| ENSG00000117593
| Aspartate--tRNA ligase, mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]: Autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. Note=The disease is caused by mutations affecting the gene represented in this entry. |
611105 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
