PEX1
PEX1
A gene on chromosome 7q21.2 that encodes peroxin-1, a protein of the AAA ATPase family, which have various cell functions. This cytoplasmic protein forms heteromeric complexes with the peroxisomal membrane, where it plays a role in peroxisome biogenesis and in importing proteins into peroxisomes.Molecular pathology
PEX1 mutations are associated with complementation group 1 peroxisomal disorders—e.g., neonatal adrenoleukodystrophy, infantile Refsum disease, Zellweger syndrome.