NMNAT1, Official Symbol NMNAT1provided by HGNC Official Full Name nicotinamide nucleotide adenylyltransferase 1provided by HGNC Primary source HGNC:HGNC:17877 See related Ensembl:ENSG00000173614 MIM:608700; AllianceGenome:HGNC:17877 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCA9; NMNAT; PNAT1; SHILCA Summary 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] Expression Ubiquitous expression in colon (RPKM 3.7), kidney (RPKM 3.0) and 25 other tissues See more Orthologs mouse all