View ABCD1 gene homepage

General information
Gene symbol ABCD1
Gene name ATP-binding cassette, sub-family D (ALD), member 1
Chromosome X
Chromosomal band q28
Imprinted Not imprinted
Genomic reference NG_009022.1
Transcript reference NM_000033.3
Exon/intron information NM_000033.3
Associated with diseases ALD, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 74
Unique public DNA variants reported 49
Individuals with public variants 112
Hidden variants 0
Notes The work leading to the establishment of this gene variant was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project. The database was initiated to assist storing the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543.
Date created September 13, 2012
Date last updated October 24, 2015
Version ABCD1:151024

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/ABCD1
External URL Orphanet
HGNC 61
Entrez Gene 215
PubMed articles ABCD1
OMIM - Gene 300371
OMIM - Diseases ALD (adrenoleukodystrophy (ALD))
HGMD ABCD1
GeneCards ABCD1
GeneTests ABCD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000390 X ATP-binding cassette, sub-family D (ALD), member 1 NM_000033.3 NP_000024.2 74


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 © 2012-2016. 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.