RGD Reference Report - Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant. - Rat Genome Database

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Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant.

Authors: Tsukamoto, T  Miura, S  Nakai, T  Yokota, S  Shimozawa, N  Suzuki, Y  Orii, T  Fujiki, Y  Sakai, F  Bogaki, A  Yasumo, H  Osumi, T 
Citation: Tsukamoto T, etal., Nat Genet 1995 Dec;11(4):395-401.
RGD ID: 729462
Pubmed: PMID:7493019   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1295-395   (Journal Full-text)

Rat peroxisome assembly factor-2 (PAF-2) cDNA was isolated by functional complementation of peroxisome deficiency of a mutant CHO cell line, ZP92, using transient transfection assay. This cDNA encodes a 978-amino acid protein with two putative ATP-binding sites. PAF-2 is a member of a putative ATPase family, including two yeast gene products essential for peroxisome assembly. A stable transformant of ZP92 with the cDNA was morphologically and biochemically restored for peroxisome biogenesis. Fibroblasts derived from patients deficient in peroxisome biogenesis (complementation group C) were also complemented with PAF-2 cDNA, indicating that PAF-2 is a strong candidate for the pathogenic gene of group C peroxisome deficiency.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PEX6Humanperoxisomal disease  ISOPex6 (Rattus norvegicus) RGD 
Pex6Ratperoxisomal disease  IMP  RGD 
Pex6Mouseperoxisomal disease  ISOPex6 (Rattus norvegicus) RGD 

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Pex6Ratperoxisome organization  IMP  RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pex6  (peroxisomal biogenesis factor 6)

Genes (Mus musculus)
Pex6  (peroxisomal biogenesis factor 6)

Genes (Homo sapiens)
PEX6  (peroxisomal biogenesis factor 6)


Additional Information