GPD1L Antibody – Rabbit Polyclonal

The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]

GPD1L: Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L. Defects in GPD1L are the cause of Brugada syndrome type 2 (BRGDA2). An autosomal dominant tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset. Defects in GPD1L are a cause of sudden infant death syndrome (SIDS). SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.

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

Chromosomal Location of Human Ortholog: 3p22.3

Cellular Component: cytosol; glycerol-3-phosphate dehydrogenase complex; plasma membrane

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

Biological Process: carbohydrate metabolic process; glycerol-3-phosphate catabolic process; NAD metabolic process; NADH metabolic process; negative regulation of peptidyl-serine phosphorylation; phosphatidic acid biosynthetic process; regulation of heart rate; triacylglycerol biosynthetic process

Disease: Brugada Syndrome 2