Citations for
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.
Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A, Korman SH.
J Hum Genet 52(7):599-606. Epub 2007 May 30. 2007
2PXMP3, PEX6, PEX10, PEX12, PEX13, PBD12
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
Krause C, Rosewich H, Thanos M, Gartner J.
Hum Mutat 27(11):1157. 2006
3PEX12, PBD6
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
Gootjes J, Schmohl F, Waterham HR, Wanders RJ.
Eur J Hum Genet 12(2):115-20. 2004
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.
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.
Hum Mutat 24(2):130-9. 2004
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.
Okumoto K, Abe I, Fujiki Y.
J Biol Chem 275(33):25700-10. 2000
6PEX10, PEX12, PEX5
PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.
Chang CC, Warren DS, Sacksteder KA, Gould SJ.
J Cell Biol 147(4):761-74. 1999
7PBD6, PEX12
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.
Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y.
Mol Cell Biol 18(7):4324-36. 1998
8PBD6, PEX12
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.
Chang CC, Lee WH, Moser H, Valle D, Gould SJ.
Nat Genet 15(4):385-8. 1997