PEX6 Antibody – Rabbit Polyclonal

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. [provided by RefSeq, Oct 2008]

PEX6: Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in PEX6 are the cause of peroxisome biogenesis disorder complementation group 4 (PBD-CG4); also known as PBD-CGC. 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 PEX6 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 AAA ATPase family.

Protein type: Membrane protein, peripheral

Chromosomal Location of Human Ortholog: 6p21.1

Cellular Component: peroxisomal membrane; cytoplasm; peroxisome; cytosol

Molecular Function: protein C-terminus binding; protein binding; ATPase activity; protein complex binding; ATPase activity, coupled; ATP binding

Biological Process: protein stabilization; peroxisome organization and biogenesis; protein targeting to peroxisome; metabolic process; protein import into peroxisome matrix, translocation

Disease: Peroxisome Biogenesis Disorder 4b; Peroxisome Biogenesis Disorder 4a (zellweger)