Gene: GPD1L

Alternate names for this Gene: GPD1-L

Gene Summary: 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).

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.3

Description of this Gene: glycerol-3-phosphate dehydrogenase 1 like

Type of Gene: protein-coding

rs72552291 in GPD1L gene and Brugada Syndrome 2 PMID 17967976 2007 Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.

PMID 17967977 2007 Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.

PMID 19666841 2009 GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.

PMID 19745168 2009 Cardiac Na+ current regulation by pyridine nucleotides.

rs72552291 in GPD1L gene and Death in infancy PMID 27435932 2016 Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.