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Literature summary for 6.1.1.12 extracted from

  • Uluc, K.; Baskan, O.; Yildirim, K.A.; Ozsahin, S.; Koseoglu, M.; Isak, B.; Scheper, G.C.; Gunal, D.I.; van der Knaap, M.S.
    Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings (2008), J. Neurol. Sci., 273, 118-122.
    View publication on PubMed
Search for more literature for 6.1.1.12

Cloned(Commentary)

Cloned (Comment) Organism
gene DARS2, DNA and amino acid sequence determination and analysis Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information a male patient with two mutations heterogenous in the DARS2 gene, shows cerebellar, pyramidal and dorsal column dysfunctions and specific magnetic resonance imaging and characteristic magnetic resonance spectroscopy abnormalities, leukoencephalopathy with brain stem and spinal cord involvement, phenotype, overview Homo sapiens
additional information two deletion mutations in the DARS2 gene cause the autosomal recessive disorder leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. determination of cerebellar, pyramidal and dorsal column dysfunctions and abnormalities, e.g. in in the superior cerebellar peduncles, the intraparenchymal trajectories of the trigeminal nerves, the pyramidal tracts, and the medial lemniscus, by resonance imaging, MRI, and magnetic resonance spectroscopy, MRS, phenotype, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
 Homo sapiens 5739
-

Metals/Ions

Metals/Ions Comment Organism Structure
Mg2+
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + L-aspartate + tRNAAsp Homo sapiens
-
 AMP + diphosphate + L-aspartyl-tRNAAsp
-
 ?
additional information Homo sapiens mutations in the DARS2 gene cause the autosomal recessive disorder leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, overview ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 gene DARS2
-
Homo sapiens
-
 male, DARS2 gene
-

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
 Homo sapiens
-
spinal cord
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + L-aspartate + tRNAAsp
-
 Homo sapiens AMP + diphosphate + L-aspartyl-tRNAAsp
-
 ?
additional information mutations in the DARS2 gene cause the autosomal recessive disorder leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, overview Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
Aspartyl-tRNA synthetase
-
 Homo sapiens
mAspRS
-
 Homo sapiens
mitochondrial aspartyl-tRNA synthetase
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
25
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.5
-
 assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens