| nicotinamide nucleotide adenylyltransferase 1 | OKDB#: 5646 |
| Symbols: | NMNAT1 | Species: | human | ||
| Synonyms: | LCA9, NMNAT, PNAT1 | Locus: | 1p36.22 in Homo sapiens |
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| General Comment | NCBI 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] | ||||
| General function | Enzyme | ||||
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| Cellular localization | Nuclear | ||||
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| Ovarian localization | Oocyte, Granulosa | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Aug. 13, 2019, 1:41 p.m. | by: |
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| last update: | Aug. 13, 2019, 1:42 p.m. | by: | hsueh email: |
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