ALSoD: Amyotrophic Lateral Sclerosis Online Genetics Database

ALS ONLINE GENETICS DATABASE

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Gene	DYNC1H1
Other names	p22; DHC1; DNCL; DYHC; HL-3; DHC1a; DNCH1; DNECL; Dnchc1; KIAA0325; DKFZp686P2245
Gene name	dynein, cytoplasmic 1, heavy chain 1
Gene inheritance category	SALS genes
Category	ALTERED AXONAL TRANSPORT AND VESICLE TRAFFICKING
Chromosome	14q32
Genomic Coordinates	Chr14:102430865-102517135(+)
Background	Mutations in Dnch1 result in progressive motor neuron degeneration in heterozygous mice, homozygotes also have Lewy-like inclusion bodies,
Result	No association with human ALS demonstrated/ replicated
Total Mutations	0
Total Affected	0

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First_Author	Year	Title	Paper
Ahmad-Annuar	2003	No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders	Full_Paper
Hafezparast	2003	Mutations in dynein link motor neuron degeneration to defects in retrograde transport	Full_Paper
Munch	2004	Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS	Full_Paper
Shah	2006	No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach	Full_Paper

SNP (rs)	Basepair	Author	Year	Term	Paper
2251644	102467847	Shah	2006	GRCh37	No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach
941793	102507461	Shah	2006	GRCh37	No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach