The ABCD3 gene homepage

General information
Gene symbol ABCD3
Gene name ATP-binding cassette, sub-family D (ALD), member 3
Chromosome 1
Chromosomal band p21.3
Imprinted Unknown
Genomic reference NG_008865.1
Transcript reference NM_002858.3
Exon/intron information NM_002858.3 exon/intron table
Associated with diseases CBAS-5, hepatosplenomegaly
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 2
Hidden variants 2
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated June 04, 2020
Version ABCD3:200604

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_002858.3.
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
Entrez Gene 5825
PubMed articles ABCD3
OMIM - Gene 170995
OMIM - Diseases CBAS-5 (bile acid synthesis defect?, congenital, type 5 (CBAS-5))
GeneCards ABCD3
GeneTests ABCD3
Orphanet ABCD3

Active transcripts




NCBI ID     

NCBI Protein ID     

00001884 1 transcript variant 1 NM_002858.3 NP_002849.1 2

Copyright & disclaimer
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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.