ABCD1
Identifiers
Aliases	ABCD1, ABC42, ALD, ALDP, AMN, ATP binding cassette subfamily D member 1
External IDs	OMIM: 300371 MGI: 1349215 HomoloGene: 55426 GeneCards: ABCD1
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 153,724,856 bp[1] End 153,744,755 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.3|X 37.39 cM Start 72,760,203 bp[2] End 72,782,140 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal gland monocyte gastrocnemius muscle stromal cell of endometrium right coronary artery ascending aorta gastric mucosa left uterine tube left ventricle left coronary artery Top expressed in jejunum ankle myocardium of ventricle right ventricle digastric muscle internal carotid artery thoracic diaphragm duodenum brown adipose tissue extensor digitorum longus muscle More reference expression data BioGPS n/a
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding protein homodimerization activity transporter activity ATPase activity protein binding identical protein binding enzyme binding long-chain fatty acid transporter activity ATP binding Cellular component cytoplasm integral component of membrane cytosol membrane peroxisomal membrane peroxisome mitochondrion integral component of peroxisomal membrane perinuclear region of cytoplasm Biological process long-chain fatty acid import into peroxisome linoleic acid metabolic process peroxisome organization alpha-linolenic acid metabolic process long-chain fatty acid catabolic process peroxisomal membrane transport fatty acid beta-oxidation using acyl-CoA oxidase transmembrane transport very long-chain fatty acid catabolic process fatty acid beta-oxidation transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 215 11666 Ensembl ENSG00000101986 ENSMUSG00000031378 UniProt P33897 P48410 RefSeq (mRNA) NM_000033 NM_007435 RefSeq (protein) NP_000024 NP_031461 Location (UCSC) Chr X: 153.72 – 153.74 Mb Chr X: 72.76 – 72.78 Mb PubMed search [3] [4]
Wikidata
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ABCD1 is a protein that transfers fatty acids into peroxisomes.

Function

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.^[5]

Clinical significance

Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.^[5]

Interactions

ABCD1 has been shown to interact with PEX19.^[6][7]