ABCD2 (original) (raw)

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Protein-coding gene in humans

For the film, see ABCD 2.

ABCD2
Identifiers
Aliases	ABCD2, ABC39, ALDL1, ALDR, ALDRP, hALDR, ATP binding cassette subfamily D member 2
External IDs	OMIM: 601081; MGI: 1349467; HomoloGene: 55873; GeneCards: ABCD2; OMA:ABCD2 - orthologs
Gene location (Human)Chr.Chromosome 12 (human)[1]Band12q12Start39,550,033 bp[1]End39,619,803 bp[1]
Gene location (Mouse)Chr.Chromosome 15 (mouse)[2]Band15|15 E3Start91,030,074 bp[2]End91,076,002 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed intesticlecerebellar cortexcerebellar hemisphereright hemisphere of cerebellumganglionic eminenceventricular zoneAchilles tendonprefrontal cortexright auricleadipose tissueTop expressed inwhite adipose tissuebrown adipose tissuegranulocytetemporal musclesternocleidomastoid musclesubcutaneous adipose tissueintercostal muscletriceps brachii muscledigastric muscleventricular zoneMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function ATPase-coupled transmembrane transporter activity nucleotide binding ATPase activity protein binding ATP binding protein homodimerization activity long-chain fatty acid transporter activity Cellular component integral component of membrane cytosol peroxisome peroxisomal membrane membrane Biological process positive regulation of fatty acid beta-oxidation very long-chain fatty acid catabolic process fatty acid beta-oxidation very long-chain fatty acid metabolic process transmembrane transport long-chain fatty acid transport myelin maintenance neuron projection maintenance positive regulation of unsaturated fatty acid biosynthetic process negative regulation of cytokine production involved in inflammatory response negative regulation of reactive oxygen species biosynthetic process Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez22526874EnsemblENSG00000173208ENSMUSG00000055782UniProtQ9UBJ2Q61285RefSeq (mRNA)NM_005164NM_011994NM_001358967RefSeq (protein)NP_005155NP_036124NP_001345896Location (UCSC)Chr 12: 39.55 – 39.62 MbChr 15: 91.03 – 91.08 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ATP-binding cassette sub-family D member 2 is a membrane pump/transporter protein that in humans is encoded by the ABCD2 gene.[5][6]

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. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters.[6]

Clinical significance

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Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis.[6]

• ATP-binding cassette transporter

ABCD2 has been shown to interact with PEX19.[7][8]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000173208 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000055782 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Lombard-Platet G, Savary S, Sarde CO, Mandel JL, Chimini G (March 1996). "A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern". Proc Natl Acad Sci U S A. 93 (3): 1265–9. Bibcode:1996PNAS...93.1265L. doi:10.1073/pnas.93.3.1265. PMC 40068. PMID 8577752.
6. ^ a b c "Entrez Gene: ABCD2 ATP-binding cassette, sub-family D (ALD), member 2".
7. ^ Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC (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.
8. ^ Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA (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.

• Petroni A, Cappa M, Carissimi R, Blasevich M, Uziel G (2007). "Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy". J. Inherit. Metab. Dis. 30 (5): 828. doi:10.1007/s10545-007-0591-1. hdl:2434/142675. PMID 17602313. S2CID 31900837.

• Weinhofer I, Kunze M, Rampler H, Bookout AL, Forss-Petter S, Berger J (2006). "Liver X receptor alpha interferes with SREBP1c-mediated Abcd2 expression. Novel cross-talk in gene regulation". J. Biol. Chem. 280 (50): 41243–51. doi:10.1074/jbc.M509450200. PMID 16249184.

• 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.

• Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA (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.

• Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (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.

• Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P (2000). "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters". J. Biol. Chem. 274 (46): 32738–43. doi:10.1074/jbc.274.46.32738. PMID 10551832.

• Holzinger A, Mayerhofer P, Berger J, Lichtner P, Kammerer S, Roscher AA (1999). "Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy". Biochem. Biophys. Res. Commun. 258 (2): 436–42. doi:10.1006/bbrc.1999.0535. PMID 10329405.

• Holzinger A, Kammerer S, Berger J, Roscher AA (1997). "cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter". Biochem. Biophys. Res. Commun. 239 (1): 261–4. doi:10.1006/bbrc.1997.7391. PMID 9345306.

• Savary S, Troffer-Charlier N, Gyapay G, Mattei MG, Chimini G (1997). "Chromosomal localization of the adrenoleukodystrophy-related gene in man and mice". Eur. J. Hum. Genet. 5 (2): 99–101. doi:10.1159/000484741. PMID 9195160.

• ABCD2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

• Human ABCD2 genome location and ABCD2 gene details page in the UCSC Genome Browser.

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