ABCD1 (ATP binding cassette subfamily D member 1)

2010-04-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
ABC42,ALD,ALDP,AMN
FUSION GENES

Other Information

Locus ID:

NCBI: 215
MIM: 300371
HGNC: 61
Ensembl: ENSG00000101986

Variants:

dbSNP: 215
ClinVar: 215
TCGA: ENSG00000101986
COSMIC: ABCD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101986ENST00000218104P33897
ENSG00000101986ENST00000370129A6NEP8

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
Beta-oxidation of very long chain fatty acidsREACTOMER-HSA-390247
alpha-linolenic (omega3) and linoleic (omega6) acid metabolismREACTOMER-HSA-2046104
alpha-linolenic acid (ALA) metabolismREACTOMER-HSA-2046106
Linoleic acid (LA) metabolismREACTOMER-HSA-2046105

References

Pubmed IDYearTitleCitations
368104502023Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.2
368104502023Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.2
347540732022Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.7
350135842022Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment.5
350533992022Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.13
356762822022Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.7
363741782022Structural and functional insights of the human peroxisomal ABC transporter ALDP.2
347540732022Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.7
350135842022Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment.5
350533992022Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.13
356762822022Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.7
363741782022Structural and functional insights of the human peroxisomal ABC transporter ALDP.2
331279852021Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review.4
333730442021Evolution of adrenoleukodystrophy model systems.4
335005432021Acyl-CoA thioesterase activity of peroxisomal ABC protein ABCD1 is required for the transport of very long-chain acyl-CoA into peroxisomes.9

Citation

Dessen P

ABCD1 (ATP binding cassette subfamily D member 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/gene/51425/case-report-explorer/img/gene-explorer/