This condition is caused by mutations in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes. These gene are involved in peroxisome biogenesis. PEX 1 is located on long arm of chromosome 7 (7q21).2 PEX 6 is located on the short arm of chromosome 6 (6p21). These genes encode AAA+ ATPases. They form part of the mechanism that shuttles the peroxisome targeting signal receptor protein PEX5 back to the cytosol after release of its protein cargo within the peroxisomal lumen.
Heimler syndrome
Hurler syndrome
Hajdu–Cheney syndrome
Tietz syndrome
GRACILE syndrome
Stickler syndrome
Witteveen–Kolk syndrome
Malouf syndrome