MitoProteome Database

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MT001138

UniProt Annotations

Entry Information

Gene Name	aspartyl-tRNA synthetase 2, mitochondrial
Protein Entry	SYDM_HUMAN
UniProt ID	Q6PI48
Species	Human

Comments

Comment type	Description
Catalytic Activity	ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).
Disease	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. {ECO:0000269\|PubMed:17384640}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity	Belongs to the class-II aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix {ECO:0000269\|PubMed:15779907}.
Subunit	Homodimer. {ECO:0000269\|PubMed:15779907}.