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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and SIDS Susceptibility Pathways. GO annotations related to this gene include protein homodimerization activity and NAD binding. An important paralog of this gene is GPD1.
UniProtKB/Swiss-Prot 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.