Cloned (Comment) | Organism |
---|---|
gene DARS2, DNA and amino acid analysis of wild-type and mutant enzyme | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | naturylla occuring gene DARS2 mutant phenotype, overview | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene DARS2 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
brain stem | - |
Homo sapiens | - |
spinal cord | - |
Homo sapiens | - |
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 | Comment | Organism |
---|---|---|
Aspartyl-tRNA synthetase | - |
Homo sapiens |