Which disorder is associated with peroxisomal dysfunction?
Peroxisome biogenesis requires more than thirty PEX genes encoding peroxins that mediate membrane protein targeting, matrix protein import, proliferation and inheritance. Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease constitute Zellweger spectrum, recognized as prototypical peroxisomal biogenesis disorders inherited autosomal recessively with combined incidence about 1 in 50,000. Most commonly mutations in PEX1, PEX6, PEX26 members of AAA ATPase complex that recycles PEX5 receptor block both PTS1 and PTS2 import pathways, leading to cytosolic mislocalization of
Ref: Steinberg et al., Biochimica et Biophysica Acta 2006: Zellweger Syndrome and Peroxisome Biogenesis Disorders.
