ABCD3

ABCD3
Identifiers
Aliases	ABCD3, ABC43, PMP70, PXMP1, ZWS2, CBAS5, ATP binding cassette subfamily D member 3
External IDs	OMIM: 170995; MGI: 1349216; HomoloGene: 2140; GeneCards: ABCD3; OMA:ABCD3 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p21.3 Start 94,418,389 bp[1] End 94,518,666 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 G1|3 52.94 cM Start 121,552,423 bp[2] End 121,608,951 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte jejunal mucosa epithelium of nasopharynx Epithelium of choroid plexus mucosa of paranasal sinus bronchial epithelial cell kidney tubule retinal pigment epithelium palpebral conjunctiva skin of thigh Top expressed in epithelium of stomach transitional epithelium of urinary bladder left lobe of liver conjunctival fornix saccule retinal pigment epithelium mucous cell of stomach lacrimal gland gallbladder skin of external ear More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding protein homodimerization activity protein self-association ATPase activity protein binding ATP binding long-chain fatty acid transporter activity Cellular component integral component of membrane cytosol membrane intracellular membrane-bounded organelle peroxisomal membrane peroxisome peroxisomal matrix mitochondrion mitochondrial inner membrane Biological process long-chain fatty acid import into peroxisome peroxisome organization response to organic cyclic compound fatty acid biosynthetic process transmembrane transport very long-chain fatty acid catabolic process fatty acid beta-oxidation transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5825 19299 Ensembl ENSG00000117528 ENSMUSG00000028127 UniProt P28288 P55096 RefSeq (mRNA) NM_001122674 NM_002858 NM_008991 NM_001355756 RefSeq (protein) NP_001116146 NP_002849 NP_033017 NP_001342685 Location (UCSC) Chr 1: 94.42 – 94.52 Mb Chr 3: 121.55 – 121.61 Mb PubMed search [3] [4]
Wikidata
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ATP-binding cassette sub-family D member 3 is a protein that in humans is encoded by the ABCD3 gene.^[5][6][7]

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 likely plays an important role in peroxisome biogenesis.

Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders.^[7] However, this association was denied ^[8] and congenital bile acid synthesis defect-5 (CBAS5) was recently shown to be caused by homozygous mutation in the ABCD3 gene ^[9]

• ATP-binding cassette transporter

ABCD3 has been shown to interact with PEX19.^{[10][11][12][13]}

• ABCD3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• ABCD3 at The GDB Human Genome Database
• Human ABCD3 genome location and ABCD3 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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