ABCD3

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. However, this association was denied {{cite journal |pmid=9199576|year=1997|last1=Paton|first1=B. C.|last2=Heron|first2=S. E.|last3=Nelson|first3=P. V.|last4=Morris|first4=C. P.|last5=Poulos|first5=A.|title=Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome|journal=American Journal of Human Genetics|volume=60|issue=6|pages=1535–9|doi=10.1016/S0002-9297(07)64247-5|pmc=1716138}} and congenital bile acid synthesis defect-5 (CBAS5) was recently shown to be caused by homozygous mutation in the ABCD3 gene {{cite journal |pmid=25168382|year=2015|last1=Ferdinandusse|first1=S.|last2=Jimenez-Sanchez|first2=G.|last3=Koster|first3=J.|last4=Denis|first4=S.|last5=Van Roermund|first5=C. W.|last6=Silva-Zolezzi|first6=I.|last7=Moser|first7=A. B.|last8=Visser|first8=W. F.|last9=Gulluoglu|first9=M.|last10=Durmaz|first10=O.|last11=Demirkol|first11=M.|last12=Waterham|first12=H. R.|last13=Gökcay|first13=G.|last14=Wanders|first14=R. J.|last15=Valle|first15=D.|title=A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3|journal=Human Molecular Genetics|volume=24|issue=2|pages=361–70|doi=10.1093/hmg/ddu448|doi-access=free}}

• ATP-binding cassette transporter

ABCD3 has been shown to interact with PEX19.{{cite journal | vauthors = Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC | title = Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly | journal = Biochem. Biophys. Res. Commun. | volume = 291 | issue = 5 | pages = 1180–6 | date = March 2002 | pmid = 11883941 | doi = 10.1006/bbrc.2002.6568 }}{{cite journal | vauthors = Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA | title = Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p | journal = Biochem. Biophys. Res. Commun. | volume = 271 | issue = 1 | pages = 144–50 | date = April 2000 | pmid = 10777694 | doi = 10.1006/bbrc.2000.2572 }}{{cite journal | vauthors = Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ | title = PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis | journal = J. Cell Biol. | volume = 148 | issue = 5 | pages = 931–44 | date = March 2000 | pmid = 10704444 | pmc = 2174547 | doi = 10.1083/jcb.148.5.931 }}{{cite journal | vauthors = Biermanns M, Gärtner J | title = Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes | journal = Biochem. Biophys. Res. Commun. | volume = 285 | issue = 3 | pages = 649–55 | date = July 2001 | pmid = 11453642 | doi = 10.1006/bbrc.2001.5220 }}

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{{reflist|35em}}

{{refbegin|35em}}

• {{cite journal | vauthors = Gärtner J, Valle D | title = The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis | journal = Semin. Cell Biol. | volume = 4 | issue = 1 | pages = 45–52 | year = 1993 | pmid = 8453064 | doi = 10.1006/scel.1993.1006 }}
• {{cite journal | vauthors = Gärtner J, Obie C, Moser H, Valle D | title = A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1) | journal = Hum. Mol. Genet. | volume = 1 | issue = 8 | pages = 654 | year = 1993 | pmid = 1301179 | doi = 10.1093/hmg/1.8.654 }}
• {{cite journal | vauthors = Kamijo K, Kamijo T, Ueno I, Osumi T, Hashimoto T | title = Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters | journal = Biochim. Biophys. Acta | volume = 1129 | issue = 3 | pages = 323–7 | year = 1992 | pmid = 1536884 | doi = 10.1016/0167-4781(92)90510-7 }}
• {{cite journal | vauthors = Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D | title = Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3 | journal = Genomics | volume = 15 | issue = 2 | pages = 412–4 | year = 1993 | pmid = 8449508 | doi = 10.1006/geno.1993.1076 | doi-access = free }}
• {{cite journal | vauthors = Shimozawa N, Suzuki Y, Tomatsu S, Tsukamoto T, Osumi T, Fujiki Y, Kamijo K, Hashimoto T, Kondo N, Orii T | title = Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients | journal = Pediatr. Res. | volume = 39 | issue = 5 | pages = 812–5 | year = 1996 | pmid = 8726233 | doi = 10.1203/00006450-199605000-00011 | doi-access = free }}
• {{cite journal | vauthors = Kobayashi T, Shinnoh N, Kondo A, Yamada T | title = Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism | journal = Biochem. Biophys. Res. Commun. | volume = 232 | issue = 3 | pages = 631–6 | year = 1997 | pmid = 9126326 | doi = 10.1006/bbrc.1997.6340 }}
• {{cite journal | vauthors = Paton BC, Heron SE, Nelson PV, Morris CP, Poulos A | title = Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome | journal = Am. J. Hum. Genet. | volume = 60 | issue = 6 | pages = 1535–9 | year = 1997 | pmid = 9199576 | pmc = 1716138 | doi = 10.1016/S0002-9297(07)64247-5 }}
• {{cite journal | vauthors = Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D | title = Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1) | journal = Genomics | volume = 48 | issue = 2 | pages = 203–8 | year = 1998 | pmid = 9521874 | doi = 10.1006/geno.1997.5177 | doi-access = free }}
• {{cite journal | vauthors = Collins CS, Gould SJ | title = Identification of a common PEX1 mutation in Zellweger syndrome | journal = Hum. Mutat. | volume = 14 | issue = 1 | pages = 45–53 | year = 1999 | pmid = 10447258 | doi = 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J | s2cid = 22153024 | doi-access = free }}
• {{cite journal | vauthors = Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P | title = Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters | journal = J. Biol. Chem. | volume = 274 | issue = 46 | pages = 32738–43 | year = 2000 | pmid = 10551832 | doi = 10.1074/jbc.274.46.32738 | doi-access = free }}
• {{cite journal | vauthors = Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ | title = PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis | journal = J. Cell Biol. | volume = 148 | issue = 5 | pages = 931–44 | year = 2000 | pmid = 10704444 | pmc = 2174547 | doi = 10.1083/jcb.148.5.931 }}
• {{cite journal | vauthors = Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA | title = Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p | journal = Biochem. Biophys. Res. Commun. | volume = 271 | issue = 1 | pages = 144–50 | year = 2000 | pmid = 10777694 | doi = 10.1006/bbrc.2000.2572 }}
• {{cite journal | vauthors = Roerig P, Mayerhofer P, Holzinger A, Gärtner J | title = Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters | journal = FEBS Lett. | volume = 492 | issue = 1–2 | pages = 66–72 | year = 2001 | pmid = 11248239 | doi = 10.1016/S0014-5793(01)02235-9 | doi-access = free }}
• {{cite journal | vauthors = Biermanns M, Gärtner J | title = Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes | journal = Biochem. Biophys. Res. Commun. | volume = 285 | issue = 3 | pages = 649–55 | year = 2001 | pmid = 11453642 | doi = 10.1006/bbrc.2001.5220 }}
• {{cite journal | vauthors = Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC | title = Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly | journal = Biochem. Biophys. Res. Commun. | volume = 291 | issue = 5 | pages = 1180–6 | year = 2002 | pmid = 11883941 | doi = 10.1006/bbrc.2002.6568 }}
• {{cite journal | vauthors = Tanaka AR, Tanabe K, Morita M, Kurisu M, Kasiwayama Y, Matsuo M, Kioka N, Amachi T, Imanaka T, Ueda K | title = ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1) | journal = J. Biol. Chem. | volume = 277 | issue = 42 | pages = 40142–7 | year = 2002 | pmid = 12176987 | doi = 10.1074/jbc.M205079200 | doi-access = free }}
• {{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | year = 2005 | pmid = 16189514 | doi = 10.1038/nature04209 | bibcode = 2005Natur.437.1173R | s2cid = 4427026 }}

{{refend}}

• {{MeshName|ABCD3+protein,+human}}
• [http://www.gdb.org/gdb-bin/genera/genera/hgd/GenomicSegment?!action=query&displayName=abcd3 ABCD3 at The GDB Human Genome Database]
• {{UCSC gene info|ABCD3}}

{{NLM content}}

{{ABC transporters}}

{{DEFAULTSORT:Abcd3}}

Category:ATP-binding cassette transporters

{{membrane-protein-stub}}