PEX16 Antibody – Rabbit Polyclonal

PEX16: Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3. Defects in PEX16 are the cause of peroxisome biogenesis disorder complementation group 9 (PBD-CG9); also known as PBD-CGD. 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 PEX16 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-16 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 11p11.2

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to peroxisomal membrane; membrane; peroxisomal membrane; peroxisome

Molecular Function: protein binding; protein C-terminus binding

Biological Process: ER-dependent peroxisome biogenesis; peroxisome membrane biogenesis; peroxisome organization and biogenesis; protein import into peroxisome matrix; protein import into peroxisome membrane; protein targeting to peroxisome; protein to membrane docking

Disease: Peroxisome Biogenesis Disorder 8a (zellweger); Peroxisome Biogenesis Disorder 8b