GPD1L Antibody – Mouse Polyclonal

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. Ref.5 Ref.6

Catalytic activity: sn-glycerol 3-phosphate + NAD+ = glycerone phosphate + NADH.

Subunit structure: Interacts with SCN5A. Ref.5

Subcellular location: Cytoplasm. Note: Localized to the region of the plasma membrane. Ref.10

Tissue specificity: Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs. Ref.10

Involvement in disease: Brugada syndrome 2 (BRGDA2) [MIM:611777]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10Sudden infant death syndrome (SIDS) [MIM:272120]: 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.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.9

Sequence similarities: Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.

Sequence caution: The sequence BAA07648.1 differs from that shown. Reason: Erroneous initiation.