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ABCD3 

ATP-binding cassette, sub-family D (ALD), member 3
Identifiers
Symbols ABCD3; PXMP1; ABC43; PMP70
External IDs OMIM: 170995 MGI: 1349216 HomoloGene: 2140
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 5825 19299
Ensembl ENSG00000117528 ENSMUSG00000028127
Uniprot P28288 Q3U645
Refseq NM_002858 (mRNA)
NP_002849 (protein)		 NM_008991 (mRNA)
NP_033017 (protein)
Location Chr 1: 94.66 - 94.76 Mb Chr 3: 121.75 - 121.81 Mb
Pubmed search [1] [2]

ATP-binding cassette, sub-family D (ALD), member 3, also known as ABCD3, is a human gene.[1]

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.[1]

Contents

See also

References

  1. ^ a b "Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3".

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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 

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