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DARS2
Defects in DARS2 are a cause of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). LBSL is an 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. Belongs to the class-II aminoacyl-tRNA synthetase family. Note: This description may include information from UniProtKB.
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| Protein type: Aminoacyl-tRNA synthetase; EC 6.1.1.12; Ligase; Mitochondrial; Translation; Translation regulation |
| Chromosomal Location of Human Ortholog: 1q25.1 |
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Cellular Component: mitochondrial matrix; mitochondrion; nucleus
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Molecular Function: aspartate-tRNA ligase activity; aspartate-tRNA(Asn) ligase activity; ATP binding; protein binding; protein homodimerization activity; tRNA binding
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Biological Process: tRNA aminoacylation; tRNA aminoacylation for protein translation
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Disease: Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
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Reference #:
Q6PI48
(UniProtKB)
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Alt. Names/Synonyms: aspartate tRNA ligase 2, mitochondrial; Aspartate--tRNA ligase; aspartyl-tRNA synthetase 2, mitochondrial; Aspartyl-tRNA synthetase, mitochondrial; AspRS; DARS2; FLJ10514; LBSL; MT-ASPRS; RP3-383J4.2; SYDM
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Gene Symbols: DARS2
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Molecular weight:
73,563 Da
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Basal Isoelectric point:
8.19
Predict pI for various phosphorylation states
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