ABCD3

ATP-binding cassette, sub-family D (ALD), member 3
Identifiers
Symbols	ABCD3 ; PXMP1; ABC43; PMP70
External IDs	Template:OMIM5 Template:MGI HomoloGene: 2140
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

ATP-binding cassette, sub-family D (ALD), member 3, also known as ABCD3, is a human gene.

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.

See also

• ATP-binding cassette transporter

Further reading

• Gärtner J, Valle D (1993). "The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis". Semin. Cell Biol. 4 (1): 45–52. PMID 8453064.
• Gärtner J, Obie C, Moser H, Valle D (1993). "A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)". Hum. Mol. Genet. 1 (8): 654. PMID 1301179.CS1 maint: Multiple names: authors list (link)
• Gärtner J, Moser H, Valle D (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.CS1 maint: Multiple names: authors list (link)
• Kamijo K, Kamijo T, Ueno I; et al. (1992). "Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters". Biochim. Biophys. Acta. 1129 (3): 323–7. PMID 1536884.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gärtner J, Kearns W, Rosenberg C; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shimozawa N, Suzuki Y, Tomatsu S; et al. (1996). "Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients". Pediatr. Res. 39 (5): 812–5. PMID 8726233.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kobayashi T, Shinnoh N, Kondo A, Yamada T (1997). "Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism". Biochem. Biophys. Res. Commun. 232 (3): 631–6. doi:10.1006/bbrc.1997.6340. PMID 9126326.CS1 maint: Multiple names: authors list (link)
• Paton BC, Heron SE, Nelson PV; et al. (1997). "Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome". Am. J. Hum. Genet. 60 (6): 1535–9. PMID 9199576.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D (1998). "Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1)". Genomics. 48 (2): 203–8. doi:10.1006/geno.1997.5177. PMID 9521874.CS1 maint: Multiple names: authors list (link)
• Collins CS, Gould SJ (1999). "Identification of a common PEX1 mutation in Zellweger syndrome". Hum. Mutat. 14 (1): 45–53. doi:10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J. PMID 10447258.
• Liu LX, Janvier K, Berteaux-Lecellier V; et al. (2000). "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters". J. Biol. Chem. 274 (46): 32738–43. PMID 10551832.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sacksteder KA, Jones JM, South ST; et al. (2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis". J. Cell Biol. 148 (5): 931–44. PMID 10704444.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gloeckner CJ, Mayerhofer PU, Landgraf P; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Roerig P, Mayerhofer P, Holzinger A, Gärtner J (2001). "Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters". FEBS Lett. 492 (1–2): 66–72. PMID 11248239.CS1 maint: Multiple names: authors list (link)
• Biermanns M, Gärtner J (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.
• Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC (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.CS1 maint: Multiple names: authors list (link)
• Tanaka AR, Tanabe K, Morita M; et al. (2002). "ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1)". J. Biol. Chem. 277 (42): 40142–7. doi:10.1074/jbc.M205079200. PMID 12176987.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• ABCD3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• ABCD3 at The GDB Human Genome Database

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