PEX3 Human Recombinant Protein

The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

PEX3: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes. Defects in PEX3 are the cause of peroxisome biogenesis disorder complementation group 12 (PBD-CG12); also known as PBD-CGG. 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 PEX3 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. Belongs to the peroxin-3 family.

Protein type: Membrane protein, multi-pass; Transporter; Vesicle; Transporter, ABC family; Membrane protein, integral

Chromosomal Location of Human Ortholog: 6q24.2

Cellular Component: nucleoplasm; peroxisomal membrane; integral to peroxisomal membrane; protein complex; intracellular membrane-bound organelle; membrane; endoplasmic reticulum; peroxisome; cytosol

Molecular Function: protein dimerization activity; protein binding; lipid binding; amino acid transmembrane transporter activity

Biological Process: peroxisome organization and biogenesis; protein import into peroxisome membrane; peroxisome membrane biogenesis; transmembrane transport

Disease: Peroxisome Biogenesis Disorder 10a (zellweger)