Identity
HGNC
LOCATION
Xq28
LOCUSID
ALIAS
ABC42,ALD,ALDP,AMN
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 215
MIM: 300371
HGNC: 61
Ensembl: ENSG00000101986
Variants:
dbSNP: 215
ClinVar: 215
TCGA: ENSG00000101986
COSMIC: ABCD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000101986 | ENST00000218104 | P33897 |
| ENSG00000101986 | ENST00000370129 | A6NEP8 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36810450 | 2023 | Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP. | 2 |
| 36810450 | 2023 | Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP. | 2 |
| 34754073 | 2022 | Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1. | 7 |
| 35013584 | 2022 | Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment. | 5 |
| 35053399 | 2022 | Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy. | 13 |
| 35676282 | 2022 | Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1. | 7 |
| 36374178 | 2022 | Structural and functional insights of the human peroxisomal ABC transporter ALDP. | 2 |
| 34754073 | 2022 | Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1. | 7 |
| 35013584 | 2022 | Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment. | 5 |
| 35053399 | 2022 | Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy. | 13 |
| 35676282 | 2022 | Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1. | 7 |
| 36374178 | 2022 | Structural and functional insights of the human peroxisomal ABC transporter ALDP. | 2 |
| 33127985 | 2021 | Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review. | 4 |
| 33373044 | 2021 | Evolution of adrenoleukodystrophy model systems. | 4 |
| 33500543 | 2021 | Acyl-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/abcd1
