AAH06327.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Peroxisomal biogenesis factor 14
NCBI Official Synonym Full Names
peroxisomal biogenesis factor 14
NCBI Official Synonym Symbols
NAPP2; PBD13A; Pex14p; dJ734G22.2 [Similar Products]
NCBI Protein Information
peroxisomal membrane protein PEX14; peroxin-14; PTS1 receptor docking protein; PTS1 receptor-docking protein; NF-E2 associated polypeptide 2; peroxisomal membrane anchor protein PEX14; peroxisomal membrane anchor protein Pex14p
UniProt Protein Name
Peroxisomal membrane protein PEX14
UniProt Synonym Protein Names
PTS1 receptor-docking protein; Peroxin-14; Peroxisomal membrane anchor protein PEX14
UniProt Entry Name
PEX14_HUMAN
NCBI Summary for PEX14
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]
UniProt Comments for PEX14
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: peroxisomal membrane; protein complex; intracellular membrane-bound organelle; membrane; integral to membrane; nucleolus; peroxisome; intracellular; nucleus
Molecular Function: protein binding; microtubule binding; beta-tubulin binding; protein N-terminus binding; transcription corepressor activity; receptor binding
Biological Process: peroxisome organization and biogenesis; negative regulation of transcription factor activity; protein import into peroxisome matrix; protein complex assembly; negative regulation of transcription, DNA-dependent; negative regulation of protein binding; protein import into peroxisome matrix, translocation; protein homooligomerization
Disease: Peroxisome Biogenesis Disorder 13a (zellweger)
Research Articles on PEX14
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Products associated with anti-PEX14 antibody
Pathways associated with anti-PEX14 antibody
Diseases associated with anti-PEX14 antibody
Organs/Tissues associated with anti-PEX14 antibody
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