NMNAT2 Chromosome 1
Nicotinamide nucleotide adenylyltransferase 2
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What This Gene Does
This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS768849266 | Health Risk | Likely pathogenic | — |
| RS775499191 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |