Rabbit anti-Human PEX2 Polyclonal Antibody | anti-PEX2 antibody
Anti-PEX2 Antibody
Western Blot (WB)
(Western blot analysis of PEX2 expression in Hela (A) whole cell lysates.)
Immunohistochemistry (IHC)
(Immunohistochemical analysis of PEX2 staining in human prostate cancer formalin fixed paraffin embedded tissue section. The section was pre-treated using heat mediated antigen retrieval with sodium citrate buffer (pH 6.0). The section was then incubated with the antibody at room temperature and detected using an HRP conjugated compact polymer system. DAB was used as the chromogen. The section was then counterstained with haematoxylin and mounted with DPX.)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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, multi-pass; Membrane protein, integral; Motility/polarity/chemotaxis; Ubiquitin conjugating system; Cell development/differentiation
Chromosomal Location of Human Ortholog: 8q21.1
Cellular Component: integral to peroxisomal membrane; membrane; peroxisomal membrane
Molecular Function: protein binding; zinc ion binding
Biological Process: bile acid biosynthetic process; cholesterol homeostasis; fatty acid beta-oxidation; negative regulation of epithelial cell proliferation; negative regulation of fibroblast proliferation; negative regulation of transcription from RNA polymerase II promoter; neuron migration; peroxisome organization and biogenesis; protein destabilization; protein import into peroxisome matrix; regulation of cholesterol biosynthetic process; very-long-chain fatty acid metabolic process
Disease: Peroxisome Biogenesis Disorder 5a (zellweger); Peroxisome Biogenesis Disorder 5b
