Our genetic findings suggest that GPIHBP1 might also have an important role in human triglyceride metabolism, albeit only one missense mutation in GPIHBP1 – G56R – was found among 160 patients with an analogous phenotype to mice with a deleted Gpihbp1 gene, namely severe type 5 hyperlipoproteinemia, fasting chylomicronemia and a normal coding sequence of LPL and APOC2 genes. This evidence concerns the gene GPIHBP1 and Hyperlipoproteinemia type 5.