NMNAT1 Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2014]

NMNAT1: Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NAAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following mechanical or toxic insults. Belongs to the eukaryotic NMN adenylyltransferase family.

Protein type: EC 2.7.7.18; Cofactor and Vitamin Metabolism - nicotinate and nicotinamide; Transferase; EC 2.7.7.1

Chromosomal Location of Human Ortholog: 1p36.22

Cellular Component: nucleoplasm; nucleus

Molecular Function: protein binding; nicotinamide-nucleotide adenylyltransferase activity; nicotinate-nucleotide adenylyltransferase activity; ATP binding

Biological Process: NAD biosynthetic process; vitamin metabolic process; NAD metabolic process; water-soluble vitamin metabolic process

Disease: Leber Congenital Amaurosis 9