PEX13 Antibody – Goat Polyclonal

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

PEX13: Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins. Defects in PEX13 are the cause of peroxisome biogenesis disorder complementation group 13 (PBD-CG13); also known as PBD-CGH. PBD-CG13 is a peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: 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 (PBD-ZSS). Defects in PEX13 are a cause of adrenoleukodystrophy neonatal (NALD). NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long- chain fatty acids, adrenal insufficiency and mental retardation. Belongs to the peroxin-13 family.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 2p16.1

Cellular Component: integral to peroxisomal membrane; intracellular membrane-bound organelle; membrane; peroxisomal membrane; peroxisome

Molecular Function: protein binding

Biological Process: cerebral cortex cell migration; fatty acid alpha-oxidation; locomotory behavior; microtubule-based peroxisome localization; neuron migration; positive regulation of defense response to virus by host; protein import into peroxisome matrix, docking; suckling behavior

Disease: Peroxisome Biogenesis Disorder 11a (zellweger); Peroxisome Biogenesis Disorder 11b