ABCD1 Chromosome X
ATP binding cassette subfamily D member 1
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What This Gene Does
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATP binding cassette subfamily D
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000101986
Associated Conditions (23)
Adrenoleukodystrophy
Inborn genetic diseases
ABCD1-related disorder
X-linked spondyloepimetaphyseal dysplasia
X-linked cerebral adrenoleukodystrophy
Intellectual disability
Ehlers-Danlos syndrome
kyphoscoliotic type 1
Myocarditis
Recurrent fever
Episodic vomiting
Encephalitis
Nonpapillary renal cell carcinoma
Abnormality of the nervous system
Thyroid cancer
nonmedullary
1
Lung cancer
Clear cell carcinoma of kidney
Primary adrenocortical insufficiency
+3 more conditions
Key Variants
RS11146842
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Adrenoleukodystrophy, Adrenoleukodystrophy
Health Risk
RS1131691743
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Inborn genetic diseases, ABCD1-related disorder
Health Risk
RS1131691954
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Adrenoleukodystrophy
Health Risk
RS1159943880
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Adrenoleukodystrophy, Inborn genetic diseases
Health Risk
RS1204814114
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Inborn genetic diseases, Adrenoleukodystrophy
Health Risk
RS1224689084
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Adrenoleukodystrophy
Health Risk
RS1255903649
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Adrenoleukodystrophy
Health Risk
RS128624218
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, X-linked spondyloepimetaphyseal dysplasia, Inborn genetic diseases
Health Risk
RS1324874967
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Inborn genetic diseases, Adrenoleukodystrophy
Health Risk
RS1354388799
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Adrenoleukodystrophy
Health Risk
RS140263823
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Inborn genetic diseases, ABCD1-related disorder
Health Risk
RS141110958
Conflicting classifications of pathogenicity
Adrenoleukodystrophy, Inborn genetic diseases, Adrenoleukodystrophy
Health Risk
All Variants (480)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603236013 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS193922093 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS193922098 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, History of neurodevelopmental disorder, ABCD1-related disorder |
| RS202125585 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2091705296 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy, ABCD1-related disorder |
| RS2091705631 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2091707872 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2091749146 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2091772331 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2148388645 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2148388971 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2148388986 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2148389975 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2148397558 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522276561 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522288304 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Adrenoleukodystrophy, Inborn genetic diseases |
| RS2522291397 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522291662 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS2522297188 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Adrenoleukodystrophy, Inborn genetic diseases |
| RS2522298866 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS387906496 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS398123106 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS398123108 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Spastic paraplegia, Spastic gait |
| RS398123112 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS713993050 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, ABCD1-related disorder, Adrenoleukodystrophy |
| RS781862879 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Inborn genetic diseases, Adrenoleukodystrophy |
| RS797044781 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS868911300 | Health Risk | Pathogenic/Likely pathogenic | ABCD1-related disorder, ABCD1-related disorder |
| RS886044777 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, ABCD1-related disorder, Adrenoleukodystrophy |
| RS941503814 | Health Risk | Pathogenic/Likely pathogenic | Adrenoleukodystrophy, Adrenoleukodystrophy |