GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneDYNC1H1
Other namesp22; DHC1; DNCL; DYHC; HL-3; DHC1a; DNCH1; DNECL; Dnchc1; KIAA0325; DKFZp686P2245
Gene namedynein, cytoplasmic 1, heavy chain 1
Gene inheritanceSALS genes
Discovery methodGWAS
CategoryALTERED AXONAL TRANSPORT AND VESICLE TRAFFICKING
Chromosome14q32
Genomic CoordinatesChr14:102430865-102517135 ( +)
BackgroundMutations in Dnch1 result in progressive motor neuron degeneration in heterozygous mice, homozygotes also have Lewy-like inclusion bodies,
ResultNo association with human ALS demonstrated/ replicated
Total Mutations0
Total Affected0

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (4)

First_AuthorYearTitlePaper
Ahmad-Annuar2003No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disordersFull_Paper
Hafezparast2003Mutations in dynein link motor neuron degeneration to defects in retrograde transportFull_Paper
Munch2004Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALSFull_Paper
Shah2006No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approachFull_Paper