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MGP004601

UniProt Annotations

Entry Information
Gene Nameglycerol-3-phosphate dehydrogenase 1-like
Protein EntryGPD1L_HUMAN
UniProt IDQ8N335
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activitysn-glycerol 3-phosphate + NAD(+) = glycerone phosphate + NADH.
DiseaseBrugada 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. {ECO:0000269|PubMed:17967977}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseSudden 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. {ECO:0000269|PubMed:17967976}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionPlays 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. {ECO:0000269|PubMed:19666841, ECO:0000269|PubMed:19745168}.
Sequence CautionSequence=BAA07648.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:17967977}. Note=Localized to the region of the plasma membrane.
SubunitInteracts with SCN5A. {ECO:0000269|PubMed:19666841, ECO:0000269|Ref.8}.
Tissue SpecificityMost highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs. {ECO:0000269|PubMed:17967977}.
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