Aliases for GPD1L 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]
GeneCards Summary for GPD1L Gene
GPD1L (Glycerol-3-Phosphate Dehydrogenase 1 Like) is a Protein Coding gene. Diseases associated with GPD1L include Brugada Syndrome 2 and Brugada Syndrome. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and NAD binding. An important paralog of this gene is GPD1.
UniProtKB/Swiss-Prot Summary for GPD1L Gene
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.