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ATP-binding cassette, sub-family D (ALD), member 3
Symbols ABCD3 ; ABC43; PMP70; PXMP1; ZWS2
External IDs OMIM170995 MGI1349216 HomoloGene2140 GeneCards: ABCD3 Gene
RNA expression pattern
PBB GE ABCD3 202850 at tn.png
More reference expression data
Species Human Mouse
Entrez 5825 19299
Ensembl ENSG00000117528 ENSMUSG00000028127
UniProt P28288 P55096
RefSeq (mRNA) NM_001122674 NM_008991
RefSeq (protein) NP_001116146 NP_033017
Location (UCSC) Chr 1:
94.88 – 94.98 Mb
Chr 3:
121.76 – 121.82 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family D member 3 is a protein that in humans is encoded by the ABCD3 gene.[1][2][3]


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.[3]

Clinical significance[edit]

Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders.[3]

See also[edit]


ABCD3 has been shown to interact with PEX19.[4][5][6][7]


  1. ^ Gärtner J, Moser H, Valle D (June 1993). "Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome". Nat Genet 1 (1): 16–23. doi:10.1038/ng0492-16. PMID 1301993. 
  2. ^ Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland N, Gilbert D et al. (April 1993). "Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3". Genomics 15 (2): 412–4. doi:10.1006/geno.1993.1076. PMID 8449508. 
  3. ^ a b c "Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3". 
  4. ^ Mayerhofer P, Kattenfeld T, Roscher A, Muntau A (March 2002). "Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly". Biochem. Biophys. Res. Commun. 291 (5): 1180–6. doi:10.1006/bbrc.2002.6568. PMID 11883941. 
  5. ^ Gloeckner C, Mayerhofer P, Landgraf P, Muntau A, Holzinger A, Gerber J et al. (April 2000). "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p". Biochem. Biophys. Res. Commun. 271 (1): 144–50. doi:10.1006/bbrc.2000.2572. PMID 10777694. 
  6. ^ Sacksteder K, Jones J, South S, Li X, Liu Y, Gould S (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis". J. Cell Biol. 148 (5): 931–44. doi:10.1083/jcb.148.5.931. PMC 2174547. PMID 10704444. 
  7. ^ Biermanns M, Gärtner J (July 2001). "Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes". Biochem. Biophys. Res. Commun. 285 (3): 649–55. doi:10.1006/bbrc.2001.5220. PMID 11453642. 

Further reading[edit]

External links[edit]

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