Cloned (Comment) | Organism |
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genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
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R199W | naturally occuring mutation, the mutation in the D-amino acid oxidase gene is associated with classical adult onset familial amyotrophic lateral sclerosis the 14.52 cM region on chromosome 12q22-23 is linked to disease. Neuronal cell lines expressing R199W DAO show decreased viability and increased ubiquitinated aggregates compared with cells expressing the wild-type protein, overview. Lentiviral-mediated expression of mutant R199W DAO in primary motor neuron cultures causes increased TUNEL labeling | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | - |
- |
- |
Subunits | Comment | Organism |
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homodimer | - |
Homo sapiens |
Synonyms | Comment | Organism |
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DAO | - |
Homo sapiens |
General Information | Comment | Organism |
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additional information | mutation R199W in the D-amino acid oxidase gene, DAO is associated with classical adult onset familial amyotrophic lateral sclerosis, FALS in a three generational FALS kindred, the 14.52 cMregiononchromosome 12q22-23 is linked to disease. Lentiviral-mediated expression of R199WDAO in primary motor neuron cultures causes increased TUNEL labeling. This effect also occurs in motor neurons cocultured on transduced astrocytes expressing R199W, indicating that the motor neuron cell death induced by this mutation is mediated by both cell autonomous and noncell autonomous processes | Homo sapiens |