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    CYB5R4 cytochrome b5 reductase 4 [ Homo sapiens (human) ]

    Gene ID: 51167, updated on 11-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The N-terminal intrinsically disordered region of Ncb5or docks with the cytochrome b5 core to form a helical motif that is of ancient origin.

    The N-terminal intrinsically disordered region of Ncb5or docks with the cytochrome b(5) core to form a helical motif that is of ancient origin.
    Benson DR, Deng B, Kashipathy MM, Lovell S, Battaile KP, Cooper A, Gao P, Fenton AW, Zhu H.,

    03/8/2024
    Cytosolic localization of NADH cytochrome b oxidoreductase

    Cytosolic localization of NADH cytochrome b₅ oxidoreductase (Ncb5or).
    Zámbó V, Tóth M, Schlachter K, Szelényi P, Sarnyai F, Lotz G, Csala M, Kereszturi É.

    07/30/2016
    data provide first evidence for natural mutations in NCB5OR gene resulting in decreased protein levels and hence having potential implications in human pathology.

    Natural mutations lead to enhanced proteasomal degradation of human Ncb5or, a novel flavoheme reductase.
    Kálmán FS, Lizák B, Nagy SK, Mészáros T, Zámbó V, Mandl J, Csala M, Kereszturi E.

    01/11/2014
    Mutation in cytochrome b5 reductase is associated with developmental delay and severe neurological problems.

    Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.
    Percy MJ, Barnes C, Crighton G, Leventer RJ, Wynn R, Lappin TR.

    10/6/2012
    Study of the individual cytochrome b5 and cytochrome b5 reductase domains of Ncb5or reveals a unique heme pocket and a possible role of the CS domain.

    Study of the individual cytochrome b5 and cytochrome b5 reductase domains of Ncb5or reveals a unique heme pocket and a possible role of the CS domain.
    Deng B, Parthasarathy S, Wang W, Gibney BR, Battaile KP, Lovell S, Benson DR, Zhu H., Free PMC Article

    10/23/2010
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus.
    Andersen G, Wegner L, Rose CS, Xie J, Zhu H, Larade K, Johansen A, Ek J, Lauenborg J, Drivsholm T, Borch-Johnsen K, Damm P, Hansen T, Bunn HF, Pedersen O, Andersen G, Wegner L, Rose CS, Xie J, Zhu H, Larade K, Johansen A, Ek J, Lauenborg J, Drivsholm T, Borch-Johnsen K, Damm P, Hansen T, Bunn HF, Pedersen O.

    03/13/2008
    Variaation in the coding region is not a major contributor in the pathogenesis of nonautoimmune diabetes.

    Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus.
    Andersen G, Wegner L, Rose CS, Xie J, Zhu H, Larade K, Johansen A, Ek J, Lauenborg J, Drivsholm T, Borch-Johnsen K, Damm P, Hansen T, Bunn HF, Pedersen O, Andersen G, Wegner L, Rose CS, Xie J, Zhu H, Larade K, Johansen A, Ek J, Lauenborg J, Drivsholm T, Borch-Johnsen K, Damm P, Hansen T, Bunn HF, Pedersen O., Free PMC Articles: PMC3044473, PMC3044473

    01/21/2010
    NCB5OR is a novel soluble NAD(P)H reductase localized in the endoplasmic reticulum

    NCB5OR is a novel soluble NAD(P)H reductase localized in the endoplasmic reticulum.
    Zhu H, Larade K, Jackson TA, Xie J, Ladoux A, Acker H, Berchner-Pfannschmidt U, Fandrey J, Cross AR, Lukat-Rodgers GS, Rodgers KR, Bunn HF., Free PMC Article

    01/21/2010
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