GPD1L

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).

Full Name

glycerol-3-phosphate dehydrogenase 1-like

Function

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.

Biological Process

Carbohydrate metabolic process Source: InterPro
Glycerol-3-phosphate catabolic process Source: InterPro
NADH metabolic process Source: Ensembl
NAD metabolic process Source: BHF-UCL
Negative regulation of peptidyl-serine phosphorylation Source: BHF-UCL
Negative regulation of protein kinase C signaling Source: BHF-UCL
Positive regulation of protein localization to cell surface Source: BHF-UCL
Positive regulation of sodium ion transport Source: BHF-UCL
Regulation of heart rate Source: BHF-UCL
Regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
Regulation of ventricular cardiac muscle cell membrane depolarization Source: BHF-UCL
Ventricular cardiac muscle cell action potential Source: BHF-UCL

Cellular Location

Cytoplasm. Localized to the region of the plasma membrane.

Involvement in disease

Brugada syndrome 2 (BRGDA2):
A 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, the individual will faint and may die in a few minutes if the heart is not reset.