NMNAT1 Human, Active
Description
Product Specs
Product Science Overview
Nicotinamide Nucleotide Adenylyltransferase 1 (NMNAT1) is a crucial enzyme involved in the biosynthesis of nicotinamide adenine dinucleotide (NAD), a coenzyme essential for various metabolic processes. This enzyme catalyzes the formation of NAD from nicotinamide mononucleotide (NMN) and ATP, playing a pivotal role in cellular metabolism and energy production .
NMNAT1 is a protein-coding gene that produces an enzyme localized specifically to the cell nucleus. The enzyme’s activity leads to the activation of a nuclear deacetylase, which functions in the protection of damaged neurons . The enzyme is composed of 279 amino acids and has a calculated molecular mass of approximately 31.9 kDa . It contains a conserved N-terminal adenylyltransferase motif, an N-terminal N-glycosylation site, and several potential transmembrane regions .
NMNAT1 is widely expressed in various tissues, with high levels observed in skeletal muscle, heart, liver, and kidney . Northern blot analysis has detected two transcripts of NMNAT1, with the 3.1-kb transcript being more abundant . Immunofluorescence microscopy has localized NMNAT1 to the nucleus in human fibroblasts and hepatoma cell lines .
The enzyme’s activity is crucial for NAD biosynthesis, which is involved in hundreds of metabolic redox reactions. NAD and its derivatives are utilized in protein ADP-ribosylation, histone deacetylation, and some calcium signaling pathways . NMNAT1’s role in NAD biosynthesis makes it essential for cellular metabolism and energy production.
Mutations in the NMNAT1 gene have been associated with several disorders, including Leber congenital amaurosis 9, a severe retinal dystrophy that leads to blindness . Additionally, NMNAT1 is linked to spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and other conditions .
