PEX7


PEX7

A gene on chromosome 6q23.3 that encodes peroxin-7, a cytosolic receptor that targets the peroxisomal matrix enzymes to the peroxisome.
 
Molecular pathology
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.