PEX12
Mutations in 12 different PEX genes can cause a generalized peroxisomal biogenesis disorder with clinical phenotypes ranging from Zellweger syndrome to infantile Refsum disease. PEX12 defect can also the basis for a peroxisomal biogenesis disorder.
References
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. 2007;52(7):599-606. PMID: #17534573#