| Description | Protein which, if defective, causes rhizomelic chondrodysplasia punctata (RCDP). This lethal autosomal recessive disease is characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and intellectual disability. RCDP type 1 (RCDP1) is the classical and most common form. It is a peroxisome biogenesis disorder caused by mutations in the PEX7 gene, which encodes the PTS2-receptor peroxin-7. RCDP type 2 (RCDP2) and RCDP type 3 (RCDP3) result from single peroxisomal enzyme deficiencies: dihydroxyacetone phosphate synthase is deficient in RCDP2 and dihydroxyacetone phosphate acyltransferase in RCDP3. Both enzymes are involved in the biosynthesis of plasmalogens |
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