Full name: nicotinamide nucleotide adenylyltransferase 1

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 2610529L11Rik; 5730441G13Rik; D4Cole1e; nmnat

Summary: Enables nicotinamide-nucleotide adenylyltransferase activity and nicotinate-nucleotide adenylyltransferase activity. Involved in negative regulation of neuron death. Acts upstream of or within NAD biosynthetic process and response to wounding. Located in nucleus. Used to study Leber congenital amaurosis 9 and retinal degeneration. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 9 and spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis. Orthologous to human NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in testis adult (RPKM 10.9), thymus adult (RPKM 6.7) and 28 other tissues

Gene size: 17642bp

Exon count: 5