Glycerol-3-Phosphate Dehydrogenase (GPD1) Antibody – Rabbit Polyclonal

This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

GPD1: Defects in GPD1 are a cause of 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. Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.

Protein type: EC 1.1.1.8; Lipid Metabolism - glycerophospholipid; Oxidoreductase

Chromosomal Location of Human Ortholog: 12q13.12

Cellular Component: cytosol; glycerol-3-phosphate dehydrogenase complex; mitochondrion

Molecular Function: glycerol-3-phosphate dehydrogenase (NAD+) activity; glycerol-3-phosphate dehydrogenase activity; NAD binding; protein homodimerization activity

Biological Process: cellular lipid metabolic process; gluconeogenesis; glycerol-3-phosphate catabolic process; glycerophosphate shuttle; glycerophospholipid biosynthetic process; phosphatidic acid biosynthetic process; phospholipid metabolic process; positive regulation of glycolysis; triacylglycerol biosynthetic process

Disease: Hypertriglyceridemia, Transient Infantile