Peroxisomal biogenesis factor 1 (PEX1)

Peroxisomal biogenesis factor 1 (PEX1) is an ATPase of the AAA protein family, functioning as a peroxin essential for the formation, maintenance, and protein import machinery of peroxisomes[1][3][5][7]. PEX1, in complex with PEX6, forms a heterohexameric AAA-ATPase that uses ATP-driven conformational changes to extract the peroxisomal import receptor PEX5 from the peroxisomal membrane, thus recycling it for further rounds of matrix enzyme import[5][6][7]. Mutations in PEX1 disrupt peroxisome assembly and function, and are the leading genetic cause of Zellweger spectrum disorders, including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease[1][2][3][5]. These diseases present as devastating, multisystem, usually lethal pediatric disorders caused by failure of peroxisome biogenesis and resultant defects in lipid metabolism and detoxification pathways[1][2][5][7]. No approved drugs directly target PEX1; current medical interest is genetic and diagnostic, not pharmacologic.

Other names

Peroxisomal ATPase PEX1Peroxin-1Peroxisome biogenesis disorder protein 1HMLR1PBD1APBD1BZWSZWS1