NADSYN1
Function
Catalyzes the final step of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway, the ATP-dependent amidation of deamido-NAD using L-glutamine as a nitrogen source.
Involvement in disease
Vertebral, cardiac, renal, and limb defects syndrome 3
VCRL3
An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from deamido-NAD(+) (L-Gln route): step 1/1.
Sequence Similarities
In the C-terminal section; belongs to the NAD synthetase family.
Alternative names
Glutamine-dependent NAD(+) synthetase, NAD(+) synthase [glutamine-hydrolyzing], NAD(+) synthetase, NADSYN1