PEX14 Antibody – Rabbit Polyclonal

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]

PEX14: Component of the peroxisomal translocation machinery with PEX13 and PEX17. Interacts with both the PTS1 and PTS2 receptors. Binds directly to PEX17. Defects in PEX14 are the cause of peroxisome biogenesis disorder complementation group K (PBD-CGK). PBD-CGK 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 PEX14 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-14 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 1p36.22

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

Molecular Function: beta-tubulin binding; microtubule binding; protein binding; protein N-terminus binding; receptor binding; transcription corepressor activity

Biological Process: negative regulation of protein binding; negative regulation of transcription factor activity; negative regulation of transcription, DNA-dependent; peroxisome organization and biogenesis; protein complex assembly; protein homooligomerization; protein import into peroxisome matrix; protein import into peroxisome matrix, translocation

Disease: Peroxisome Biogenesis Disorder 13a (zellweger)