GeneID: 377

Description:
Nicotinamide adenine dinucleotide (NADH) cytochrome b5 (Cyb5) reductase 3 (CYB5R3) is a flavoprotein that transfers electrons from NADH through Cyb5 to an electron acceptor. It exists in membrane-bound and soluble forms. The membrane-bound enzyme participates in various physiologic processes, including fatty acid elongation and desaturation and drug metabolism, whereas the soluble enzyme is expressed exclusively in erythrocytes and functions in methaemoglobin reduction. CYB5R3 is induced under stress conditions and exerts antioxidant properties. It plays a role in NO-sGC-cGMP signaling and has been implicated in the development of vascular and organ pathology in sickle cell disease (SCD). In vitro studies demonstrated that CYB5R3 is involved in the induction of fetal haemoglobin (HbF) by hydroxyurea (HU), while its loss has been negatively associated with HbF and hematocrit in HU-treated SCD individuals. Genetic variants in this gene represent promising predictive markers of response to HU treatment in SCD [https://doi.org/10.1182/blood-2022-165388].

Synonyms: B5R , DIA1

Comments:
N/A

Number of entries/variants: 0

1. Rahaman MM, Nguyen AT, Miller MP, Hahn SA, Sparacino-Watkins C, Jobbagy S, Carew NT, Cantu-Medellin N, Wood KC, Baty CJ, Schopfer FJ, Kelley EE, Gladwin MT, Martin E, Straub AC, Cytochrome b5 Reductase 3 Modulates Soluble Guanylate Cyclase Redox State and cGMP Signaling., Circ. Res., 121(2), 137-148, 2017 PubMed
2. Wood KC, Durgin BG, Schmidt HM, Hahn SA, Baust JJ, Bachman T, Vitturi DA, Ghosh S, Ofori-Acquah SF, Mora AL, Gladwin MT, Straub AC, Smooth muscle cytochrome b5 reductase 3 deficiency accelerates pulmonary hypertension development in sickle cell mice., Blood Adv, 3(23), 4104-4116, 2019 PubMed