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MGP001278

UniProt Annotations

Entry Information
Gene Nameglycerol-3-phosphate dehydrogenase 1 (soluble)
Protein EntryGPDA_HUMAN
UniProt IDP21695
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P21695-1; Sequence=Displayed; Name=2; IsoId=P21695-2; Sequence=VSP_045999; Note=No experimental confirmation available.;
Catalytic Activitysn-glycerol 3-phosphate + NAD(+) = glycerone phosphate + NADH.
DiseaseHypertriglyceridemia, transient infantile (HTGTI) [MIM:614480]: An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. {ECO:0000269|PubMed:22226083, ECO:0000269|PubMed:24549054}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationInhibited by zinc ions and sulfate. {ECO:0000269|PubMed:16460752}.
SimilarityBelongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitHomodimer. {ECO:0000269|PubMed:16460752}.
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