MGP Database

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MGP005384

UniProt Annotations

Entry Information
Gene Nameaspartyl-tRNA synthetase 2, mitochondrial
Protein EntrySYDM_HUMAN
UniProt IDQ6PI48
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).
DiseaseLeukoencephalopathy 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. {ECO:0000269|PubMed:17384640}. Note=The disease is caused by mutations affecting the gene represented in this entry.
SimilarityBelongs to the class-II aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000269|PubMed:15779907}.
SubunitHomodimer. {ECO:0000269|PubMed:15779907}.
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