Glycerol-3-Phosphate Dehydrogenase-1-Like Protein (GPD1L)

GPD1L 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).

The deduced 411-amino acid protein contains an NAD-dependent glycerol-3-phosphate dehydrogenase (GPD1) motif, and it shares 71.8% identity with GPD1. Northern blot analysis detected a single GPD1L transcript in all tissues examined except liver. Highest expression was in heart and skeletal muscle.