| 1 | PBD6,PEX12
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| A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
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| Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A, Korman SH.
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| J Hum Genet 52(7):599-606. Epub 2007 May 30. 2007
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| 2 | PXMP3, PEX6, PEX10, PEX12, PEX13, PBD12
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| Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
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| Krause C, Rosewich H, Thanos M, Gartner J.
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| Hum Mutat 27(11):1157. 2006
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| 3 | PEX12, PBD6
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| Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
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| Gootjes J, Schmohl F, Waterham HR, Wanders RJ.
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| Eur J Hum Genet 12(2):115-20. 2004
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| 4 | PEX12
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| Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.
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| Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, Huemer M, Von Schutz M, Marquardt T, Smeitink JA, Waterham HR, Wanders RJ.
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| Hum Mutat 24(2):130-9. 2004
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| 5 | PEX12
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| Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p.
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| Okumoto K, Abe I, Fujiki Y.
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| J Biol Chem 275(33):25700-10. 2000
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| 6 | PEX10, PEX12, PEX5
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| PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.
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| Chang CC, Warren DS, Sacksteder KA, Gould SJ.
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| J Cell Biol 147(4):761-74. 1999
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| 7 | PBD6, PEX12
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| PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.
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| Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y.
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| Mol Cell Biol 18(7):4324-36. 1998
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| 8 | PBD6, PEX12
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| Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.
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| Chang CC, Lee WH, Moser H, Valle D, Gould SJ.
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| Nat Genet 15(4):385-8. 1997
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