Gene PEX7
Back to Curriculum
Also known as
PBD6B, PTS2R, RCDP1, Peroxin-7Overview
PEX7 (Peroxisomal Biogenesis Factor 7) encodes a receptor protein that is crucial for importing specific enzymes into peroxisomes. The PEX7 protein recognizes and binds to proteins containing a peroxisomal targeting signal type 2 (PTS2), facilitating their transport into the peroxisome. These imported enzymes are involved in various metabolic processes, including the alpha-oxidation of phytanic acid and the biosynthesis of plasmalogens, which are essential phospholipids in myelin and other cell membranes.Mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1), an autosomal recessive disorder characterized by skeletal abnormalities, cataracts, and intellectual disability. The severity of RCDP1 varies depending on the specific mutations, with some individuals having milder symptoms and longer survival than the classical severe form. RCDP1 is distinct from Zellweger spectrum disorders in that peroxisomes are present but lack specific enzymes. Genetic testing of PEX7 is important for diagnosis, prognosis, and genetic counseling for affected families.