NMNAT (EC 2.7.7.1) is a central enzyme in NAD biosynthesis, catalyzing the condensation of nicotinamide mononucleotide (NMN) or nicotinic acid mononucleotide (NaMN) with the AMP moiety of ATP to form NAD or NaAD. [7] NMNAT1 is the most widely expressed of three orthologous genes with nicotinamide-nucleotide adenylyltransferase (NMNAT) activity.

Based on their localization, three different NMNAT's have been recognized, NMNAT-1 (homohexamer) in the nucleus (chromosome 1 p32-35), NMNAT-2 (homodimer) in the cytoplasm (chromosome 1q25) and NMNAT-3 (homotetramer) in the mitochondria.

The enzyme nicotinamide mononucleotide adenylyltransferase (NMNAT) catalyzes a reaction central to all known NAD biosynthetic routes. In mammals, three isoforms with distinct molecular and catalytic properties, different subcellular and tissue distribution have been characterized.

Mutations across human NMNAT1 gene cause LCA9, characterized by early-onset and rapid progression of vision loss and retinal degeneration. Decreased mRNA levels of human NMNAT2 and NMNAT3 are correlated with cognitive dysfunction and neurodegeneration.

2024年12月25日 · NMNAT1 (Nicotinamide Nucleotide Adenylyltransferase 1) is a Protein Coding gene. Diseases associated with NMNAT1 include Leber Congenital Amaurosis 9 and Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis.

2025年2月8日 · NMNAT1 Is Essential for Human iPS Cell Differentiation to the Retinal Lineage. Lactate enhances NMNAT1 lactylation to sustain nuclear NAD[+] salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions.

The NMNAT1 level is significantly induced after DNA damage, suggesting that NMNAT1 provides a signaling pathway between stress and SirT1-dependent gene regulation. NMNAT1 is located in a chromosomal region frequently deleted in cancer.

2017年6月1日 · Nicotinamide mononucleotide adenylyl transferases (NMNATs) are a family of highly conserved proteins indispensable for cellular homeostasis. NMNATs are classically known for their enzymatic function of catalyzing NAD+ synthesis, but also have gained a reputation as essential neuronal maintenance factors.

2024年12月10日 · Clinical resource with information about NMNAT1, Leber congenital amaurosis 9, Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis, and available tests.

2023年9月24日 · These results demonstrate that adipocyte NMNAT1 expression is required for maintaining nuclear NAD + concentration, but not for regulating BAT thermogenesis or whole-body energy homeostasis. Keywords: Adipose tissue; Energy metabolism; NAD(+); NMNAT1; Nucleus; Thermogenesis.