Peroxisome Biogenesis Factor 2 (PEX2) Mouse Recombinant Protein

PXMP3: Somewhat implicated in the biogenesis of peroxisomes. Defects in PEX2 are the cause of peroxisome biogenesis disorder complementation group 5 (PBD-CG5); also known as PBD-CGF. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Defects in PEX2 are a cause of Zellweger syndrome (ZWS). ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life. Defects in PEX2 are a cause of infantile Refsum disease (IRD). IRD is a mild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Belongs to the pex2/pex10/pex12 family.

Protein type: Motility/polarity/chemotaxis; Membrane protein, multi-pass; Cell development/differentiation; Ubiquitin conjugating system; Membrane protein, integral

Cellular Component: peroxisomal membrane; integral to peroxisomal membrane; membrane; integral to membrane; peroxisome

Molecular Function: zinc ion binding; metal ion binding

Biological Process: nervous system development; bile acid biosynthetic process; cholesterol homeostasis; fatty acid beta-oxidation; protein destabilization; very-long-chain fatty acid metabolic process; peroxisome organization and biogenesis; negative regulation of fibroblast proliferation; regulation of cholesterol biosynthetic process; protein import into peroxisome matrix; neuron migration; negative regulation of transcription from RNA polymerase II promoter; negative regulation of epithelial cell proliferation