NADSYN1
Chr 11ARNAD synthetase 1
Also known as: VCRL3
NAD synthetase catalyzes the final step in nicotinamide adenine dinucleotide (NAD) biosynthesis, converting deamido-NAD to NAD using ATP and glutamine. Mutations cause vertebral, cardiac, renal, and limb defects syndrome 3, a congenital malformation disorder with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (low constraint), consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NADSYN1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools