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
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
211454162011Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation.35
244804832014X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.35
105518321999Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.27
105518321999Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.27
105518321999Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.27
236712762013Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.27
125094712003Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy.21
157814472005Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved.18
119922582002Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.16

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/abcd1