NADSYN1 Chromosome 11
NAD synthetase 1
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What This Gene Does
Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000172890
Associated Conditions (8)
Vertebral
cardiac
renal
and limb defects syndrome 3
NADSYN1-related disorder
Inborn genetic diseases
Congenital NAD deficiency disorder
Neurodevelopmental delay
Key Variants
RS1376159616
Conflicting classifications of pathogenicity
Vertebral, cardiac, renal
Health Risk
RS201006776
Conflicting classifications of pathogenicity
Vertebral, cardiac, renal
Health Risk
RS201096943
Conflicting classifications of pathogenicity
Inborn genetic diseases, Vertebral, cardiac
Health Risk
RS369264749
Conflicting classifications of pathogenicity
Vertebral, cardiac, renal
Health Risk
RS746448347
Likely pathogenic
Vertebral, cardiac, renal
Health Risk
RS1008561025
Pathogenic
Vertebral, cardiac, renal
Health Risk
RS1327307171
Pathogenic
Vertebral, cardiac, renal
Health Risk
RS1949650831
Pathogenic
Vertebral, cardiac, renal
Health Risk
RS2120383809
Pathogenic
Health Risk
RS769220327
Pathogenic
Congenital NAD deficiency disorder, Vertebral, cardiac
Health Risk
RS144139747
Pathogenic/Likely pathogenic
Vertebral, cardiac, renal
Health Risk
RS368115694
Pathogenic/Likely pathogenic
Vertebral, cardiac, renal
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1376159616 | Health Risk | Conflicting classifications of pathogenicity | Vertebral, cardiac, renal |
| RS201006776 | Health Risk | Conflicting classifications of pathogenicity | Vertebral, cardiac, renal |
| RS201096943 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Vertebral, cardiac |
| RS369264749 | Health Risk | Conflicting classifications of pathogenicity | Vertebral, cardiac, renal |
| RS746448347 | Health Risk | Likely pathogenic | Vertebral, cardiac, renal |
| RS1008561025 | Health Risk | Pathogenic | Vertebral, cardiac, renal |
| RS1327307171 | Health Risk | Pathogenic | Vertebral, cardiac, renal |
| RS1949650831 | Health Risk | Pathogenic | Vertebral, cardiac, renal |
| RS2120383809 | Health Risk | Pathogenic | — |
| RS769220327 | Health Risk | Pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS144139747 | Health Risk | Pathogenic/Likely pathogenic | Vertebral, cardiac, renal |
| RS368115694 | Health Risk | Pathogenic/Likely pathogenic | Vertebral, cardiac, renal |
| RS764123669 | Health Risk | Pathogenic/Likely pathogenic | Vertebral, cardiac, renal |