ABCD3

ATP结合盒转运蛋白亚族D成员3（英语：ATP-binding cassette subfamily D member 3）是一种在人类中由ABCD3基因编码的蛋白质。 由该基因编码的蛋白质是ATP结合盒转运蛋白（简称ABC转运蛋白）超家族的成员。ABC转运蛋白可跨细胞外膜和细胞内膜转运各种分子。ABC基因分为七个不同的亚家族（A、B、C、D、E、F、G）。这种蛋白质是D亚族（也叫ALD亚族）的成员，它参与细胞器中脂肪酸和/或脂酰辅酶A的过氧化物酶体输入。所有已知的过氧化物酶体ABC转运蛋白都是半转运蛋白，需要伴侣半转运蛋白分子来形成功能性同二聚体或异二聚体转运蛋白。这种过氧化物酶体膜蛋白可能在过氧化物酶体生物发生中起重要作用。 突变与某些形式的脑肝肾综合征有关，脑肝肾综合征是一组异质的过氧化物酶体组装障碍。然而，这种关联被否认，而先天性胆汁酸合成缺陷5（CBAS5）则在最近被证明是由ABCD3基因的纯合突变引起的 ABCD3已被证明能与PEX19相互作用。 ATP结合盒转运蛋白 與ABCD3相關的疾病；在維基數據上查看/編輯參考.  GRCh38: Ensembl release 89: ENSG00000117528 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000028127 - Ensembl, May 2017 Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.  Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.  Gärtner J, Moser H, Valle D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet. June 1993, 1 (1): 16–23. PMID 1301993. 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Human Molecular Genetics. 2015, 24 (2): 361–70. PMID 25168382. doi:10.1093/hmg/ddu448 .  Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. Biochem. Biophys. Res. Commun. March 2002, 291 (5): 1180–6. PMID 11883941. doi:10.1006/bbrc.2002.6568.  Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. Biochem. Biophys. Res. Commun. April 2000, 271 (1): 144–50. PMID 10777694. doi:10.1006/bbrc.2000.2572.  Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J. Cell Biol. March 2000, 148 (5): 931–44. PMC 2174547 . PMID 10704444. doi:10.1083/jcb.148.5.931.  Biermanns M, Gärtner J. Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes. Biochem. Biophys. Res. Commun. July 2001, 285 (3): 649–55. PMID 11453642. doi:10.1006/bbrc.2001.5220.  Gärtner J, Valle D. The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis. Semin. Cell Biol. 1993, 4 (1): 45–52. PMID 8453064. doi:10.1006/scel.1993.1006.  Gärtner J, Obie C, Moser H, Valle D. A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1). Hum. Mol. Genet. 1993, 1 (8): 654. PMID 1301179. doi:10.1093/hmg/1.8.654.  Kamijo K, Kamijo T, Ueno I, Osumi T, Hashimoto T. Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. Biochim. Biophys. Acta. 1992, 1129 (3): 323–7. PMID 1536884. doi:10.1016/0167-4781(92)90510-7.  Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D. Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3. Genomics. 1993, 15 (2): 412–4. PMID 8449508. doi:10.1006/geno.1993.1076 .  Shimozawa N, Suzuki Y, Tomatsu S, Tsukamoto T, Osumi T, Fujiki Y, Kamijo K, Hashimoto T, Kondo N, Orii T. Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients. Pediatr. Res. 1996, 39 (5): 812–5. PMID 8726233. doi:10.1203/00006450-199605000-00011 .  Kobayashi T, Shinnoh N, Kondo A, Yamada T. Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Biochem. Biophys. Res. Commun. 1997, 232 (3): 631–6. PMID 9126326. doi:10.1006/bbrc.1997.6340.  Paton BC, Heron SE, Nelson PV, Morris CP, Poulos A. Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome. Am. J. Hum. Genet. 1997, 60 (6): 1535–9. PMC 1716138 . PMID 9199576. doi:10.1016/S0002-9297(07)64247-5.  Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D. Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). Genomics. 1998, 48 (2): 203–8. PMID 9521874. doi:10.1006/geno.1997.5177 .  Collins CS, Gould SJ. Identification of a common PEX1 mutation in Zellweger syndrome. Hum. Mutat. 1999, 14 (1): 45–53. PMID 10447258. S2CID 22153024. doi:10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J .  Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. J. Biol. Chem. 2000, 274 (46): 32738–43. PMID 10551832. doi:10.1074/jbc.274.46.32738 .  Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J. Cell Biol. 2000, 148 (5): 931–44. PMC 2174547 . PMID 10704444. doi:10.1083/jcb.148.5.931.  Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. Biochem. Biophys. Res. Commun. 2000, 271 (1): 144–50. PMID 10777694. doi:10.1006/bbrc.2000.2572.  Roerig P, Mayerhofer P, Holzinger A, Gärtner J. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. FEBS Lett. 2001, 492 (1–2): 66–72. PMID 11248239. doi:10.1016/S0014-5793(01)02235-9 .  Biermanns M, Gärtner J. Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes. Biochem. Biophys. Res. Commun. 2001, 285 (3): 649–55. PMID 11453642. doi:10.1006/bbrc.2001.5220.  Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. Biochem. Biophys. Res. Commun. 2002, 291 (5): 1180–6. PMID 11883941. doi:10.1006/bbrc.2002.6568.  Tanaka AR, Tanabe K, Morita M, Kurisu M, Kasiwayama Y, Matsuo M, Kioka N, Amachi T, Imanaka T, Ueda K. ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1). J. Biol. Chem. 2002, 277 (42): 40142–7. PMID 12176987. doi:10.1074/jbc.M205079200 .  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. Towards a proteome-scale map of the human protein-protein interaction network. Nature. 2005, 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. PMID 16189514. S2CID 4427026. doi:10.1038/nature04209.  醫學主題詞表（MeSH）：ABCD3+protein,+human ABCD3 at The GDB Human Genome Database Human ABCD3 genome location and ABCD3 gene details page in the UCSC Genome Browser（英语：UCSC Genome Browser）.