The 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_009022.2
Transcript reference NM_000033.3
Exon/intron information NM_000033.3 exon/intron table
Associated with diseases ALD, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 251
Unique public DNA variants reported 176
Individuals with public variants 133
Hidden variants 15
Download all this gene's data Download all data
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 April 29, 2010
Date last updated December 01, 2023
Version ABCD1:231201

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_000033.3.
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 Adrenoleukodystrophy ABCD1 database
Entrez Gene 215
PubMed articles ABCD1
OMIM - Gene 300371
OMIM - Diseases ALD (adrenoleukodystrophy (ALD))
GeneCards ABCD1
GeneTests ABCD1
Orphanet ABCD1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000390 X ATP-binding cassette, sub-family D (ALD), member 1 NM_000033.3 NP_000024.2 251

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2010-2023. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.