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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 2p15
Cellular Component:  integral component of peroxisomal membrane; intracellular membrane-bounded organelle; 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; protein import into peroxisome matrix, docking; protein targeting to peroxisome; protein ubiquitination; suckling behavior
Disease: Peroxisome Biogenesis Disorder 11a (zellweger); Peroxisome Biogenesis Disorder 11b
Reference #:  Q92968 (UniProtKB)
Alt. Names/Synonyms: NALD; Peroxin-13; peroxisomal biogenesis factor 13; Peroxisomal membrane protein PEX13; peroxisome biogenesis factor 13; PEX13; ZWS
Gene Symbols: PEX13
Molecular weight: 44,130 Da
Basal Isoelectric point: 7.77  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene