PEX10 Antibody – Rabbit Polyclonal

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PEX10: Somewhat implicated in the biogenesis of peroxisomes. Defects in PEX10 are the cause of peroxisome biogenesis disorder complementation group 7 (PBD-CG7); also known as PBD-CGB. 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 PEX10 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 PEX10 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 pex2/pex10/pex12 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 6.3.2.-; Ubiquitin ligase; Ubiquitin conjugating system; Ligase

Chromosomal Location of Human Ortholog: 1p36.32

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

Molecular Function: protein C-terminus binding; protein binding; zinc ion binding

Biological Process: peroxisome organization and biogenesis; protein import into peroxisome matrix

Disease: Peroxisome Biogenesis Disorder 6b; Peroxisome Biogenesis Disorder 6a (zellweger)