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Gene Ontology Classifications
Symbol
Name
ID
Pex5
peroxisomal biogenesis factor 5
MGI:1098808

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Pex5. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of July 9, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Amery L et al. (2001) Identification of PEX5p-related novel peroxisome-targeting signal 1 (PTS1)-binding proteins in mammals. Biochem J, 357:635-46. (PubMed:11463335)
  2. Baes M et al. (1997) A mouse model for Zellweger syndrome. Nat Genet, 17:49-57. (PubMed:9288097)
  3. Baumgart E et al. (2001) Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). Am J Pathol, 159:1477-94. (PubMed:11583975)
  4. Dirkx R et al. (2005) Absence of peroxisomes in mouse hepatocytes causes mitochondrial and ER abnormalities. Hepatology, 41:868-78. (PubMed:15732085)
  5. Dirkx R et al. (2007) Beta-oxidation in hepatocyte cultures from mice with peroxisomal gene knockouts. Biochem Biophys Res Commun, 357:718-23. (PubMed:17442273)
  6. Huyghe S et al. (2006) Peroxisomal multifunctional protein 2 is essential for lipid homeostasis in sertoli cells and male fertility in mice. Endocrinology, 147:2228-36. (PubMed:16484321)
  7. Janssen A et al. (2003) Neuronal migration depends on intact peroxisomal function in brain and in extraneuronal tissues. J Neurosci, 23:9732-41. (PubMed:14586000)
  8. Janssen A et al. (2000) Docosahexaenoic acid deficit is not a major pathogenic factor in peroxisome-deficient mice. Lab Invest, 80:31-5. (PubMed:10653000)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory