This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15.

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Western blotting analysis using NMNAT1 antibody . Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with NMNAT1 antibody and HRP-conjugated goat anti-mouse secondary antibody respectively. Image was developed using FeQ™ ECL Substrate Kit .

Western blotting analysis using NMNAT1 antibody (Cat #64842). NMNAT1 expression in wild-type (WT) and NMNAT1 shRNA knockdown (KD) HeLa cells with 20 μg of total cell lysates. Hsp90 α serves as a loading control. The blot was incubated with NMNAT1 antibody (Cat #64842, 1:2,500) and HRP-conjugated goat anti-mouse secondary antibody (Cat #101, 1:20,000) respectively. Image was developed using NaQ™ ECL Substrate Kit (Cat #716).

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