Peroxisomal biogenesis factor 7 (PEX7)

Peroxisomal biogenesis factor 7 (PEX7) is a protein receptor required for the import of specific enzymes—those containing a peroxisome targeting signal 2 (PTS2)—into the peroxisome, an essential organelle for lipid metabolism and detoxification processes[1][2][3]. PEX7 operates in the cytosol, binding PTS2-containing enzymes such as alkylglycerone phosphate synthase and phytanoyl-CoA hydroxylase, and facilitates their translocation into the peroxisome via interaction with other peroxisomal import machinery[1][2]. Loss-of-function mutations in PEX7 lead to severe peroxisomal biogenesis disorders, most notably rhizomelic chondrodysplasia punctata type 1 (RCDP1), characterized by skeletal, neurological, and developmental abnormalities, and less commonly adult Refsum disease, linked to phytanic acid accumulation and neuropathy[1][2][3][4]. No clinically approved drugs target PEX7; the gene and encoded protein are mainly of interest in rare genetic disorder diagnosis and research.

Other names

Peroxisomal targeting signal 2 receptorPTS2 receptorPTS2RPeroxin-7Refsum disease proteinPBD9BRCDP1 receptorperoxisomal PTS2 receptorperoxisome targeting signal 2 receptorPEX7_HUMAN