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Keyword - Rhizomelic chondrodysplasia punctata (KW-0685)

Definition

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 mental retardation. 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.

Synonyms

  • RCDP

Category

Disease

Graphical

DiseaseRhizomelic chondrodysplasia punctata
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