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    RBP3 retinol binding protein 3 [ Homo sapiens (human) ]

    Gene ID: 5949, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.

    RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
    Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M.

    02/13/2024
    Towards a New Biomarker for Diabetic Retinopathy: Exploring RBP3 Structure and Retinoids Binding for Functional Imaging of Eyes In Vivo.

    Towards a New Biomarker for Diabetic Retinopathy: Exploring RBP3 Structure and Retinoids Binding for Functional Imaging of Eyes In Vivo.
    Kaushik V, Gessa L, Kumar N, Fernandes H., Free PMC Article

    03/27/2023
    Elevated Retinol Binding Protein 3 Concentrations Are Associated With Decreased Vitreous Inflammatory Cytokines, VEGF, and Progression of Diabetic Retinopathy.

    Elevated Retinol Binding Protein 3 Concentrations Are Associated With Decreased Vitreous Inflammatory Cytokines, VEGF, and Progression of Diabetic Retinopathy.
    Fickweiler W, Park H, Park K, Mitzner MG, Chokshi T, Boumenna T, Gautier J, Zaitsu Y, Wu IH, Cavallerano J, Aiello LP, Sun JK, King GL., Free PMC Article

    09/17/2022
    Elevated expression of photoreceptor-secreted RBP3 may have a role in protection against the progression of diabetic retinopathy.

    Retinol binding protein 3 is increased in the retina of patients with diabetes resistant to diabetic retinopathy.
    Yokomizo H, Maeda Y, Park K, Clermont AC, Hernandez SL, Fickweiler W, Li Q, Wang CH, Paniagua SM, Simao F, Ishikado A, Sun B, Wu IH, Katagiri S, Pober DM, Tinsley LJ, Avery RL, Feener EP, Kern TS, Keenan HA, Aiello LP, Sun JK, King GL., Free PMC Article

    07/25/2020
    this report is the first to describe the retinal dystrophy in children caused by homozygous nonsense RBP3 mutations, highlighting the requirement for IRBP in normal eye development and visual function.

    Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
    Arno G, Hull S, Robson AG, Holder GE, Cheetham ME, Webster AR, Plagnol V, Moore AT.

    08/29/2015
    CMPK1 and RBP3 are associated with corneal curvature in Asian populations.

    CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
    Chen P, Miyake M, Fan Q, Liao J, Yamashiro K, Ikram MK, Chew M, Vithana EN, Khor CC, Aung T, Tai ES, Wong TY, Teo YY, Yoshimura N, Saw SM, Cheng CY.

    07/25/2015
    We found that most patients with macular telangiectasia-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3, and CK-B.

    Anti-retinal antibodies in patients with macular telangiectasia type 2.
    Zhu L, Shen W, Zhu M, Coorey NJ, Nguyen AP, Barthelmes D, Gillies MC.

    11/2/2013
    Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).

    Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).
    Li S, Yang Z, Hu J, Gordon WC, Bazan NG, Haas AL, Bok D, Jin M., Free PMC Article

    06/15/2013
    The mouse retina promotes cone dark adaptation eightfold faster than the retinal pigment epithelium. However, complete cone recovery requires both visual cycles.

    The mammalian cone visual cycle promotes rapid M/L-cone pigment regeneration independently of the interphotoreceptor retinoid-binding protein.
    Kolesnikov AV, Tang PH, Parker RO, Crouch RK, Kefalov VJ., Free PMC Article

    08/6/2011
    It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies.

    Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
    Ksantini M, Sénéchal A, Bocquet B, Meunier I, Brabet P, Hamel CP, Ksantini M, Sénéchal A, Bocquet B, Meunier I, Brabet P, Hamel CP.

    01/22/2011
    Observational study of gene-disease association. (HuGE Navigator)

    Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
    Ksantini M, Sénéchal A, Bocquet B, Meunier I, Brabet P, Hamel CP, Ksantini M, Sénéchal A, Bocquet B, Meunier I, Brabet P, Hamel CP.

    12/5/2010
    Underproduction of IRBP is an early event in the human diabetic retina and is associated with retinal neurodegeneration.

    Interphotoreceptor retinoid-binding protein (IRBP) is downregulated at early stages of diabetic retinopathy.
    Garcia-Ramírez M, Hernández C, Villarroel M, Canals F, Alonso MA, Fortuny R, Masmiquel L, Navarro A, García-Arumí J, Simó R.

    05/3/2010
    Mutations in RBP3 are an infrequent cause of autosomal recessive retinitis pigmentosa.

    A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
    den Hollander AI, McGee TL, Ziviello C, Banfi S, Dryja TP, Gonzalez-Fernandez F, Ghosh D, Berson EL., Free PMC Article

    01/21/2010
    analysis of IRBP proteolysis is useful as a biomarker for uveitis

    Interphotoreceptor retinoid-binding protein as biomarker in systemic autoimmunity with eye inflictions.
    Descamps FJ, Kangave D, Cauwe B, Martens E, Geboes K, Abu El-Asrar A, Opdenakker G., Free PMC Article

    01/21/2010
    In interphotoreceptor retinoid-binding protein transgenic mice cone dysfunction appears to be caused by abnormal trafficking of cone opsins due to impaired delivery of all-transretinaldehyde chromophore without IRBP.

    The role of interphotoreceptor retinoid-binding protein on the translocation of visual retinoids and function of cone photoreceptors.
    Jin M, Li S, Nusinowitz S, Lloyd M, Hu J, Radu RA, Bok D, Travis GH., Free PMC Article

    01/21/2010
    studies suggest that IRBP and S-Ag can initiate innate and, in sensitive individuals, adaptive immune response by attracting iDCs and T and B cells expressing CXCR3 and CXCR5

    Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate.
    Howard OM, Dong HF, Su SB, Caspi RR, Chen X, Plotz P, Oppenheim JJ., Free PMC Article

    01/21/2010
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