NMNAT1

Also known as LCA9, NMNAT, PNAT1, nicotinamide nucleotide adenylyltransferase 1, SHILCA

Nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1) is an enzyme that in humans is encoded by the nmnat1 gene. It is a member of the nicotinamide-nucleotide adenylyltransferases (NMNATs) which catalyze nicotinamide adenine dinucleotide (NAD) synthesis.

Gene data

NMNAT1

Name: nicotinamide nucleotide adenylyltransferase 1
Type: protein-coding
Position: 9,943,428–9,996,898 (+)
Aliases: LCA9, NMNAT, PNAT1, SHILCA
Ensembl: ENSG00000173614
RefSeq RNA: NM_001297778.1, NM_001297779.2, NM_022787.4, XM_011541971.2, XM_017002107.3
RefSeq protein: NP_001284707.1, NP_001284708.1, NP_073624.2, XP_011540273.1, XP_016857596.1

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].