Metazoan complexes |
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Emili & Marcotte labs |
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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 | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Dars2 | CG31739 | dars-2 | Sp-Asps |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
DARS2 | FNTA | 0.215621988 | DARS2 | FNTA | cpx396 | no | no | no | Novel |
NARS2 | DARS2 | 0.340114998 | NARS2 | DARS2 | cpx396 | no | no | no | Novel |