Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic
Function
Has glycerol-3-phosphate dehydrogenase activity.
Involvement in disease
Hypertriglyceridemia, transient infantile
HTGTI
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.
Tissue Specificity
Expressed in liver (at protein level).
Cellular localization
- Cytoplasm
Alternative names
GPD-C, GPDH-C, GPD1