NMNAT3

Nicotinamide mononucleotide adenylyltransferase 3 (NMNAT3) is an enzyme that in humans is encoded by the NMNAT3 gene.[1]

NMNAT3 is the third of three protein isoforms of nicotinamide-nucleotide adenylyltransferase (NMNAT) found in humans.[2] As with the other NMNATs, NMNAT3 is an enzyme that catalyzes nicotinamide adenine dinucleotide (NAD) synthesis.[2] NMNAT3 levels are highest in liver, heart, skeletal muscle, and erythrocytes.[2]

NMNAT3 is localized in mitochondria or cytoplasm, depending upon the cell type.[3][4][5] Knockdown of NMNAT3 gene expression in cell culture strongly reduces mitochondrial function.[4] NMNAT3 is essential for maintaining NAD in red blood cells.[4]

The catechin epigallocatechin gallate found in tea can activate NMNAT3 by more than 40%.[5]

Until January 2026, mutations in the NMNAT3 gene had not been associated with any known human disease,[2] although it had been discovered that NMNAT3 deficiency causes hemolytic anemia in mice.[6] In January 2026, researchers at the University Medical Center Utrecht in Utrecht, The Netherlands, were the first to link NMNAT3 deficiency to disease in vivo, in a patient with unexplained hereditary hemolytic anemia. The patient was successfully treated by supplementing NAD.[7]

References

  1. ^ Emanuelli M, Carnevali F, Saccucci F, Pierella F, Amici A, Raffaelli N, Magni G (Feb 2001). "Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase". J Biol Chem. 276 (1): 406–12. doi:10.1074/jbc.M008700200. PMID 11027696.
  2. ^ a b c d Brazill JM, Li C, Zhu Y, Zhai RG (2017). "NMNAT: It's an NAD + Synthase… It's a Chaperone… It's a Neuroprotector". Current Opinion in Genetics & Development. 44: 156–162. doi:10.1016/j.gde.2017.03.014. PMC 5515290. PMID 28445802.
  3. ^ Cambronne XA, Kraus WL (2020). "Location, Location, Location: Compartmentalization of NAD + Synthesis and Functions in Mammalian Cells". Trends in Biochemical Sciences. 45 (10): 858–873. doi:10.1016/j.tibs.2020.05.010. PMC 7502477. PMID 32595066.
  4. ^ a b c Yaku K, Okabe K, Nakagawa T (2018). "NAD Metabolism: Implications in Aging and Longevity". Ageing Research Reviews. 47: 1–17. doi:10.1016/j.arr.2018.05.006. PMID 29883761. S2CID 47002665.
  5. ^ a b Rajman L, Chwalek K, Sinclair DA (2018). "Therapeutic Potential of NAD-Boosting Molecules: The In Vivo Evidence". Cell Metabolism. 27 (3): 529–547. doi:10.1016/j.cmet.2018.02.011. PMC 6342515. PMID 29514064.
  6. ^ Hikosaka, Keisuke; Ikutani, Masashi; Shito, Masayuki; Kazuma, Kohei; Gulshan, Maryam; Nagai, Yoshinori; Takatsu, Kiyoshi; Konno, Katsuhiro; Tobe, Kazuyuki; Kanno, Hitoshi; Nakagawa, Takashi (2014). "Deficiency of Nicotinamide Mononucleotide Adenylyltransferase 3 (Nmnat3) Causes Hemolytic Anemia by Altering the Glycolytic Flow in Mature Erythrocytes". Journal of Biological Chemistry. 289 (21): 14796–14811. doi:10.1074/jbc.M114.554378. PMC 4031534. PMID 24739386.
  7. ^ Ruiter, Titine J.J.; van Oirschot, Brigitte A.; Waanders, Esmé; Koop, Klaas; van Solinge, Wouter W.; van Wijk, Richard; Jans, Judith J.M.; Bartels, Marije (25 December 2025). "NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis". Blood. 146 (26): 3246–3249. doi:10.1182/blood.2025030958. PMID 41100733.


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