PEX12 is needed for protein import into peroxisomes.[3] This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes.
Clinical significance
The peroxisome biogenesis disorders (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early infancy. 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. This cellular phenotype is shared by yeast 'pex' mutants, and human orthologs of yeast PEX genes defective in some PBD complementation groups (CGs).[2]
↑Chang CC, Lee WH, Moser H, Valle D, Gould SJ (April 1997). "Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders". Nat Genet. 15 (4): 385–8. doi:10.1038/ng0497-385. PMID9090384.
↑ 5.05.1Okumoto K, Abe I, Fujiki Y (August 2000). "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". J. Biol. Chem. 275 (33): 25700–10. doi:10.1074/jbc.M003303200. PMID10837480.
Okumoto K, Fujiki Y (1997). "PEX12 encodes an integral membrane protein of peroxisomes". Nat. Genet. 17 (3): 265–6. doi:10.1038/ng1197-265. PMID9354782.
Schrader M, Reuber BE, Morrell JC, et al. (1998). "Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli". J. Biol. Chem. 273 (45): 29607–14. doi:10.1074/jbc.273.45.29607. PMID9792670.
Okumoto K, Abe I, Fujiki Y (2000). "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". J. Biol. Chem. 275 (33): 25700–10. doi:10.1074/jbc.M003303200. PMID10837480.
Gootjes J, Schmohl F, Waterham HR, Wanders RJ (2004). "Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder". Eur. J. Hum. Genet. 12 (2): 115–20. doi:10.1038/sj.ejhg.5201090. PMID14571262.
Gootjes J, Schmohl F, Mooijer PA, et al. (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". Hum. Mutat. 24 (2): 130–9. doi:10.1002/humu.20062. PMID15241794.
Mano S, Nakamori C, Nito K, et al. (2007). "The Arabidopsis pex12 and pex13 mutants are defective in both PTS1- and PTS2-dependent protein transport to peroxisomes". Plant J. 47 (4): 604–18. doi:10.1111/j.1365-313X.2006.02809.x. PMID16813573.
Zeharia A, Ebberink MS, Wanders RJ, et al. (2007). "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". J. Hum. Genet. 52 (7): 599–606. doi:10.1007/s10038-007-0157-y. PMID17534573.
