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    ABCD2 ATP binding cassette subfamily D member 2 [ Homo sapiens (human) ]

    Gene ID: 225, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Peroxisomal ABC Transporters: An Update.

    Peroxisomal ABC Transporters: An Update.
    Tawbeh A, Gondcaille C, Trompier D, Savary S., Free PMC Article

    07/17/2021
    The functional integrity of ABCD2 may play an important role in OA pathogenesis via the accumulation of VLCFAs and stimulation of apoptotic death through altering profiles of miRNAs that target ACSL4.

    Suppression of ABCD2 dysregulates lipid metabolism via dysregulation of miR-141:ACSL4 in human osteoarthritis.
    Park S, Oh J, Kim YI, Choe SK, Chun CH, Jin EJ.

    10/27/2018
    ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol.

    ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
    Kawaguchi K, Morita M., Free PMC Article

    02/18/2017
    13-cis-retinoic acid induces ABCD2 expression in human monocytes/macrophages.

    Evaluation of retinoids for induction of the redundant gene ABCD2 as an alternative treatment option in X-linked adrenoleukodystrophy.
    Weber FD, Weinhofer I, Einwich A, Forss-Petter S, Muneer Z, Maier H, Weber WH, Berger J., Free PMC Article

    11/14/2015
    ABCD2 has a role, but not a strong one, in risk of early recurrent events after transient ischemic attack

    Duration of symptom and ABCD2 score as predictors of risk of early recurrent events after transient ischemic attack: a hospital-based case series study.
    Li Q, Zhu X, Feng C, Fang M, Liu X., Free PMC Article

    10/31/2015
    results show that although patients with ABCD2 score greater than 4 were more likely to develop recurrent TIA/CVA in short term, those with lesser score still harbour a considerable risk for TIA/CVA

    Value of ABCD2 in predicting early ischemic stroke in patients diagnosed with transient ischemic attack.
    Chardoli M, Khajavi A, Nouri M, Rahimi-Movaghar V.

    08/9/2014
    The transcriptional activity of the ABCD2 promoter was strongly increased by ectopic expression of beta-catenin and TCF-4.

    ABCD2 is a direct target of β-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy.
    Park CY, Kim HS, Jang J, Lee H, Lee JS, Yoo JE, Lee DR, Kim DW., Free PMC Article

    08/31/2013
    HsABCD1 and HsABCD2 have distinct substrate specificities

    Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation.
    van Roermund CW, Visser WF, Ijlst L, Waterham HR, Wanders RJ.

    04/2/2011
    These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-linked adrenoleukodystrophy.

    X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.
    Maier EM, Mayerhofer PU, Asheuer M, Köhler W, Rothe M, Muntau AC, Roscher AA, Holzinger A, Aubourg P, Berger J.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (4) articles

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.

    Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
    Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S.

    Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
    Saito A, Kawamoto M, Kamatani N.

    Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
    Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM.

    09/24/2008
    Testosterone metabolites increased expression of ABCD2 mRNA in fibroblasts from X-linked adrenoleukodystrophy patients.

    Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.
    Petroni A, Cappa M, Carissimi R, Blasevich M, Uziel G.

    01/21/2010
    LXRalpha is a negative modulator of Abcd2, acting through a novel regulatory mechanism involving overlapping SREBP and LXRalpha binding sites

    Liver X receptor alpha interferes with SREBP1c-mediated Abcd2 expression. Novel cross-talk in gene regulation.
    Weinhofer I, Kunze M, Rampler H, Bookout AL, Forss-Petter S, Berger J.

    01/21/2010
    ALDRP interacts with PMP70. This interaction occurs via the ALDRP C-terminus [374-740] and the PMP70 C-terminus [338-659]. This interaction was demonstrated using human PMP70 and mouse ALDRP.

    Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
    Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P.

    06/19/2003
    ALDRP (ABCD2) homodimerizes via the C terminal half. This interaction is modelled on the demonstrated homodimerization of murine ALDRP (ABCD2).

    Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
    Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P.

    06/20/2003
    ALDP and ALDRP interact via their carboxy termini. ALDP mutations P484R and R591Q abolish this interaction. This interaction was demonstrated using human ALDP and murine ALDRP.

    Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
    Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P, Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P.

    06/19/2003
    ALDRP interacts with PEX19 splice variants PEX19-delta-E2 and PEX19-delta-E8.

    Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly.
    Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC.

    06/19/2003
    LDRP (ABCD2) interacts with both farnesylated wild-type and farnesylation-deficient mutant PEX19. This interaction is mediated by amino acids 1-218 of ALDRP.

    Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.
    Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA.

    06/22/2003
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