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    ACBD5 acyl-CoA binding domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 91452, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.

    Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.
    Costello JL, Koster J, Silva BSC, Worthy HL, Schrader TA, Hacker C, Passmore J, Kuypers FA, Waterham HR, Schrader M., Free PMC Article

    09/1/2023
    Newly defined peroxisomal disease with novel ACBD5 mutation.

    Newly defined peroxisomal disease with novel ACBD5 mutation.
    Gorukmez O, Havalı C, Gorukmez O, Dorum S.

    05/21/2022
    Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3beta.

    Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3β.
    Kors S, Hacker C, Bolton C, Maier R, Reimann L, Kitchener EJA, Warscheid B, Costello JL, Schrader M., Free PMC Article

    02/19/2022
    First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.

    First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.
    Bartlett M, Nasiri N, Pressman R, Bademci G, Forghani I.

    08/7/2021
    Peroxisomal (PO) long range movements were largely diminished in response to human ACBD5 overexpression in primary mouse hippocampal neurons. PO localization significantly changed in ACBD5-transfected neurons, PO numbers in neurites increased, while PO density in the soma was decreased. Alterations in PO motility and distribution in the hippocampal neurons were independent of the interaction between ACBD5 and mouse Vapb.

    Intracellular redistribution of neuronal peroxisomes in response to ACBD5 expression.
    Wang Y, Metz J, Costello JL, Passmore J, Schrader M, Schultz C, Islinger M., Free PMC Article

    06/1/2019
    ACBD5 captures VLC-CoAs on the cytosolic side of the peroxisomal membrane so that the transport of VLC-CoAs into peroxisomes and subsequent beta-oxidation thereof can proceed efficiently.

    Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids.
    Yagita Y, Shinohara K, Abe Y, Nakagawa K, Al-Owain M, Alkuraya FS, Fujiki Y., Free PMC Article

    06/3/2017
    VAP-ACBD5-mediated contact between the endoplasmic reticulum and peroxisomes mediate organelle maintenance and lipid homeostasis.

    VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis.
    Hua R, Cheng D, Coyaud É, Freeman S, Di Pietro E, Wang Y, Vissa A, Yip CM, Fairn GD, Braverman N, Brumell JH, Trimble WS, Raught B, Kim PK., Free PMC Article

    06/3/2017
    ACBD5-VAPB interaction regulates peroxisome-endoplasmic reticulum associations. Loss of PO-ER association perturbs PO membrane expansion and increases PO movement.

    ACBD5 and VAPB mediate membrane associations between peroxisomes and the ER.
    Costello JL, Castro IG, Hacker C, Schrader TA, Metz J, Zeuschner D, Azadi AS, Godinho LF, Costina V, Findeisen P, Manner A, Islinger M, Schrader M., Free PMC Article

    06/3/2017
    Findings suggest that the ACBD5-RET rearrangement is causatively involved in the development of papillary thyroid cancer.

    A novel RET rearrangement (ACBD5/RET) by pericentric inversion, inv(10)(p12.1;q11.2), in papillary thyroid cancer from an atomic bomb survivor exposed to high-dose radiation.
    Hamatani K, Eguchi H, Koyama K, Mukai M, Nakachi K, Kusunoki Y.

    10/31/2015
    Yeast Atg37, which is homologous to human ACBD5, is involved in autophagy of peroxisomes.

    Atg37 regulates the assembly of the pexophagic receptor protein complex.
    Nazarko TY., Free PMC Article

    07/29/2014
    A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) may have a role in autosomal dominant thrombocytopenia

    A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.
    Punzo F, Mientjes EJ, Rohe CF, Scianguetta S, Amendola G, Oostra BA, Bertoli-Avella AM, Perrotta S.

    02/26/2011
    Observational study of gene-disease association. (HuGE Navigator)

    A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A., Free PMC Article

    12/2/2009
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