The NMNAT1 gene homepage
| General information |
| Gene symbol |
NMNAT1 |
| Gene name |
nicotinamide nucleotide adenylyltransferase 1 |
| Chromosome |
1 |
| Chromosomal band |
p36.22 |
| Imprinted |
- |
| Genomic reference |
NC_000001.10 |
| Transcript reference |
NM_022787.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
19 |
| Unique public DNA variants reported |
8 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
This gene encodes an enzyme which catalyzes a key step in the biosynthesis of the coenzyme NAD. The encoded protein is one of several nicotinamide nucleotide adenylyltransferases. Studies in Drosophila and mammalian neurons have shown the encoded protein can confer protection to damaged neurons. This protection requires enzymatic activity which increases NAD levels and activates a nuclear deacetylase which is the protective molecule. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14 and 15. [provided by RefSeq, Dec 2011]
Also known as: LCA9; NMNAT; PNAT1 |
| Date created |
May 02, 2013 |
Active transcripts
| Copyright & disclaimer |
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