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_001122674.1, NM_002858.3, XM_005271088.1, XM_005271089.1
Associated with diseases CBAS-5, hepatosplenomegaly
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 57
Unique public DNA variants reported 7
Individuals with public variants 35
Hidden variants 19
Date created November 30, -0001
Date last updated September 28, 2016
Version ABCD3:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:67
Entrez Gene 5825
PubMed articles ABCD3
OMIM - Gene 170995
OMIM - Diseases CBAS-5 (bile acid synthesis defect?, congenital, type 5 (CBAS-5))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009783 1 transcript variant 1 NM_002858.3 NP_002849.1 57
00009784 1 transcript variant 2 NM_001122674.1 NP_001116146.1 19
00032057 1 transcript variant X2 XM_005271088.1 XP_005271145.1 -
00032058 1 transcript variant X3 XM_005271089.1 XP_005271146.1 -