GPD1L
GPD1L
A gene on chromosome 3p22.3 that encodes a cytoplasmic protein which catalyses the conversion of sn-glycerol 3-phosphate to glycerone phosphate, binding the voltage-gated type V, alpha subunit, of the sodium channel at the plasma membrane.Molecular pathology
TGPD1L mutations are associated with Brugada syndrome, type 2.