The DCTN1 gene homepage

General information
Gene symbol DCTN1
Gene name dynactin 1
Chromosome 2
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_008735.2
Transcript reference NM_004082.4
Exon/intron information NM_004082.4 exon/intron table
Associated with diseases ALS-1, HMN-7B, Perry
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 120
Unique public DNA variants reported 88
Individuals with public variants 79
Hidden variants 2
Notes This database is one of the ”Leiden Muscular Dystrophy pages” gene variant databases
Date created May 23, 2012
Date last updated February 08, 2021
Version DCTN1:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004082.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL For graphical displays see Human Variation DB
HGNC 2711
Entrez Gene 1639
PubMed articles DCTN1
OMIM - Gene 601143
OMIM - Diseases ALS-1 (sclerosis, lateral, amyotrophic, type 1 (ALS-1))
HMN-7B (neuropathy, motor, distal, hereditary, type VIIb (HMN-7B))
Perry (Perry syndrome)
GeneCards DCTN1
GeneTests DCTN1
Orphanet DCTN1

Active transcripts




NCBI ID     

NCBI Protein ID     

00006175 2 transcript variant 1 NM_004082.4 NP_004073.2 120

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.