| UniProt Protein Function: | 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.Protein type: Membrane protein, integralChromosomal Location of Human Ortholog: 2p16.1Cellular Component: integral to peroxisomal membrane; intracellular membrane-bound organelle; membrane; peroxisomal membrane; peroxisomeMolecular Function: protein bindingBiological Process: cerebral cortex cell migration; fatty acid alpha-oxidation; locomotory behavior; microtubule-based peroxisome localization; neuron migration; positive regulation of defense response to virus by host; protein import into peroxisome matrix, docking; suckling behaviorDisease: Peroxisome Biogenesis Disorder 11a (zellweger); Peroxisome Biogenesis Disorder 11b |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008] |
| UniProt Code: | Q92968 |
| NCBI GenInfo Identifier: | 4505723 |
| NCBI Gene ID: | 5194 |
| NCBI Accession: | NP_002609.1 |
| UniProt Secondary Accession: | Q92968,B2RCS1 |
| UniProt Related Accession: | Q92968 |
| Molecular Weight: | 44,130 Da |
| NCBI Full Name: | peroxisome biogenesis factor 13 |
| NCBI Synonym Full Names: | peroxisomal biogenesis factor 13 |
| NCBI Official Symbol: | PEX13Â Â |
| NCBI Official Synonym Symbols: | ZWS; NALD; PBD11A; PBD11BÂ Â |
| NCBI Protein Information: | peroxisome biogenesis factor 13 |
| UniProt Protein Name: | Peroxisomal membrane protein PEX13 |
| UniProt Synonym Protein Names: | Peroxin-13 |
| Protein Family: | Peroxisomal membrane protein |
| UniProt Gene Name: | PEX13Â Â |
| UniProt Entry Name: | PEX13_HUMAN |
