GPD1L gene

glycerol-3-phosphate dehydrogenase 1-like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Brugada syndrome 2

From UniProt:

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. [MIM:611777]

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. [MIM:272120]

Cytogenetic Location: 3p22.3, which is the short (p) arm of chromosome 3 at position 22.3

Molecular Location: base pairs 32,106,511 to 32,168,715 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p22.3, which is the short (p) arm of chromosome 3 at position 22.3
  • GPD1-L