GPD1L
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.
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.
None
The gene represented in this entry may be involved in disease pathogenesis.
Sequence Similarities
Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.
Tissue Specificity
Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs.
Cellular localization
- Cytoplasm
- Localized to the region of the plasma membrane.
Alternative names
KIAA0089, GPD1L, Glycerol-3-phosphate dehydrogenase 1-like protein, GPD1-L