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PEX7A gene on chromosome 6q23.3 that encodes peroxin-7, a cytosolic receptor that targets the peroxisomal matrix enzymes to the peroxisome.
PEX7 mutations cause peroxisome biogenesis disorders of the so-called complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1) and Refsum disease.
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