NADSYN1

Chr 11AR

NAD synthetase 1

Also known as: VCRL3

NCBI Gene: 55191 ENSG00000172890 UniProt: Q6IA69 OMIM: 608285

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Vertebral, cardiac, renal, and limb defects syndrome 3MIM #618845

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — NADSYN1