The ABCD4 gene homepage

General information
Gene symbol ABCD4
Gene name ATP-binding cassette, sub-family D (ALD), member 4
Chromosome 14
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_032875.1
Transcript reference NM_005050.3, NR_003256.2, XM_005267936.2, XM_005267938.2, XM_005267939.2, XM_005267940.2, XM_005267941.2, XM_005267942.2, XM_005267946.2, XM_005267949.2, XM_005267951.2, XM_005267952.2, XM_005267953.2, XM_005267954.2
Associated with diseases ID, aciduria, methylmalonic, and homocystinuria, cblJ type
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 161
Unique public DNA variants reported 30
Individuals with public variants 35
Hidden variants 4
Date created November 30, -0001
Date last updated September 28, 2016
Version ABCD4:160928

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:68
Entrez Gene 5826
PubMed articles ABCD4
OMIM - Gene 603214
OMIM - Diseases aciduria, methylmalonic, and homocystinuria, cblJ type


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024734 14 transcript variant 1 NM_005050.3 NP_005041.1 161
00036501 14 transcript variant X6 XM_005267940.2 XP_005267997.1 -
00036502 14 transcript variant X2 XM_005267936.2 XP_005267993.1 -
00036503 14 transcript variant X7 XM_005267941.2 XP_005267998.1 -
00036504 14 transcript variant X19 XM_005267953.2 XP_005268010.1 -
00036505 14 transcript variant X20 XM_005267954.2 XP_005268011.1 -
00036506 14 transcript variant X5 XM_005267939.2 XP_005267996.1 -
00036507 14 transcript variant X12 XM_005267946.2 XP_005268003.1 -
00036508 14 transcript variant X17 XM_005267951.2 XP_005268008.1 -
00036509 14 transcript variant X4 XM_005267938.2 XP_005267995.1 -
00036510 14 transcript variant X8 XM_005267942.2 XP_005267999.1 -
00036511 14 transcript variant X15 XM_005267949.2 XP_005268006.1 -
00036512 14 transcript variant X18 XM_005267952.2 XP_005268009.1 -
00036513 14 transcript variant 2 NR_003256.2 - -