PEX7 : peroxisomal biogenesis factor 7
Description
The PEX7 (peroxisomal biogenesis factor 7) is a protein-coding gene located on chromosome 6.
The PEX7 gene provides instructions for making peroxisomal biogenesis factor 7, a protein involved in the import of enzymes into peroxisomes. Peroxisomes are cell compartments responsible for breaking down fatty acids and toxic substances, and they play a role in lipid synthesis. Peroxisomal biogenesis factor 7 transports crucial enzymes, including alkylglycerone phosphate synthase (from the AGPS gene) which is needed for the synthesis of plasmalogens, and phytanoyl-CoA hydroxylase (from the PHYH gene) which helps process dietary phytanic acid.
PEX7 is required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal. PEX7 binds specifically to cargo proteins containing a PTS2 peroxisomal targeting signal in the cytosol. This binding triggers interaction with PEX5, forming a ternary complex composed of PEX5, PEX7, and PTS2-containing cargo proteins. This complex is translocated into peroxisomes by passing through the PEX13-PEX14 docking complex.
PEX7 is also known as PBD9B, PTS2R, RCDP1, RD.
Associated Diseases
- Peroxisome biogenesis disorder 9B
- Rhizomelic chondrodysplasia punctata, type 1
- Refsum disease
- Rhizomelic chondrodysplasia punctata
