In humans, deficiency of ether phospholipids evokes rhizomelic chondrodysplasia punctata (RCDP), a rare, autosomal recessive disorder caused by mutations in the genes encoding the peroxisomal enzymes GNPAT (RCDP type 2) and AGPS (RCDP type 3) or peroxin 7 (PEX7; RCDP type 1), the receptor needed for peroxisomal import of AGPS [23–27]. This evidence concerns the gene PEX7 and rhizomelic chondrodysplasia punctata.