Full name: nicotinamide nucleotide adenylyltransferase 1

Gene type: protein coding

RefSeq status: REVIEWED

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

Gene size: 53970bp

Exon count: 9