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Literature summary for 6.1.1.23 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 6.1.1.23

Cloned(Commentary)

Cloned (Comment) Organism
gene DARS2, DNA and amino acid analysis of wild-type and mutant enzyme Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information naturylla occuring gene DARS2 mutant phenotype, overview Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens mutations in the DARS2 gene lead to Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation as a disorder with an autosomal recessive mode of inheritance, the phenotype includes cerebellar, pyramidal and dorsal column dysfunctions, overview ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 gene DARS2
-

Source Tissue

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

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information mutations in the DARS2 gene lead to Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation as a disorder with an autosomal recessive mode of inheritance, the phenotype includes cerebellar, pyramidal and dorsal column dysfunctions, overview Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
Aspartyl-tRNA synthetase
-
 Homo sapiens