GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneDAO
Other namesDAAO; OXDA; DAMOX; MGC35381; DAO
Gene nameD-amino-acid oxidase
Gene inheritanceFALS genes
Discovery methodLinkage,Candidate gene
CategoryOXIDATIVE STRESS
Chromosome12q24
GRCh37 (hg19)Chr12:109273857-109294710 ( +)
GRCh38 (hg38)Chr12:108880030-108900934(+)
BackgroundAt present known genes only account for ˜30% of familial cases of classical ALS and the remaining genes require elucidation
ResultDAO controls the level of D-serine, which accumulates in the spinal cord in cases of sporadic ALS and in a mouse model of ALS, indicating that this abnormality may represent a fundamental component of ALS pathogenesis.
Mutations2
Patients2
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
2001020412

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (3)

First_AuthorYearTitlePaper
Millecamps2010Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosisFull_Paper
Millecamps2010SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlationsFull_Paper
Mitchell2010Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidaseFull_Paper