GPD1L Antibody

Glycerol-3-Phosphate Dehydrogenase 1 Like (GPD1L) is a protein-coding gene that plays a crucial role in cellular metabolism. It is involved in the conversion of sn-glycerol 3-phosphate to glycerone phosphate, a key step in the glycerophospholipid biosynthesis and metabolism pathways .

The GPD1L gene is located on chromosome 3p24 and encodes a cytoplasmic protein that is associated with the plasma membrane . This protein is known to bind the sodium channel, voltage-gated, type V, alpha subunit (SCN5A), which is essential for cardiac function .

GPD1L plays a significant role in regulating cardiac sodium current. It has been observed that decreased enzymatic activity of GPD1L leads to increased levels of glycerol 3-phosphate, which activates the GPD1L-dependent SCN5A phosphorylation pathway. This activation may ultimately result in decreased sodium current . Additionally, alterations in the NAD(H) balance induced by GPD1L can also reduce cardiac sodium current .

Mutations in the GPD1L gene have been associated with several cardiac disorders, including Brugada syndrome type 2 (BRS2) and sudden infant death syndrome (SIDS) . Brugada syndrome is characterized by a right bundle-branch block and ST elevation in the right precordial leads of the surface ECG . The mutation A280V in GPD1L has been shown to decrease inward sodium currents by approximately 50%, which can lead to inherited arrhythmias .

Understanding the function and regulation of GPD1L is crucial for developing therapeutic strategies for cardiac disorders. Research has shown that GPD1L mutations affect the trafficking of the cardiac sodium channel to the cell surface, which in turn impacts sodium current and cardiac function . Targeting the pathways and mechanisms involving GPD1L could provide new avenues for treating conditions like Brugada syndrome and SIDS.