Entity Details

Primary name NADSYN1
Entity type gene
Source Source Link

Details

PrimaryID55191
RefseqGene
SymbolNADSYN1
NameNAD synthetase 1
Chromosome11
Location11q13.4
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNADE_HUMAN

GO terms

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GOName
GO:0003952 NAD+ synthase (glutamine-hydrolyzing) activity
GO:0004359 glutaminase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0009435 NAD biosynthetic process
GO:0019674 NAD metabolic process
GO:0034627 'de novo' NAD biosynthetic process

Diseases

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Disease IDSourceNameDescription
618845 OMIMVertebral, 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. The disease is caused by variants affecting the gene represented in this entry.