PEX2 Antibody – Rabbit Polyclonal

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

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

Chromosomal Location of Human Ortholog: 8q21.1

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

Molecular Function: protein binding; zinc ion binding

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

Disease: Peroxisome Biogenesis Disorder 5a (zellweger); Peroxisome Biogenesis Disorder 5b