GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneDCTN1
Other namesP135; HMN7B; DP-150; DAP-150
Gene namedynactin 1 (p150, glued homolog, Drosophila)
Gene inheritanceFALS genes found in SALS
Discovery methodCandidate gene
CategoryALTERED AXONAL TRANSPORT AND VESICLE TRAFFICKING
Chromosome2p13
Genomic CoordinatesChr2:74588281-74619214 ( -)
BackgroundDisruption of dynein/dynactin complex produces motor neuron disease phenotype in mice
ResultOne reported association, not yet replicated
Total Mutations6
Total Affected6
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
6042151556

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ANIMAL MODELS

                               

KEY PUBLICATIONS (4)

First_AuthorYearTitlePaper
Munch2004Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALSFull_Paper
Munch2005Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTDFull_Paper
Puls2003Mutant dynactin in motor neuron diseaseFull_Paper
Takahashi2008Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosisFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
 7246649674588717 Munch2004GRCh37Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
 12190934374595997 Munch2004GRCh37Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
 12190934474594023 Munch2004GRCh37Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
 12190934574590464 Munch2005GRCh37Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD
 74605231 Puls2003GRCh37Mutant dynactin in motor neuron disease
 74592682 Takahashi2008GRCh37Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis