| PEX12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | PEX12, PAF-3, PBD3A, peroxisomal biogenesis factor 12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601758 MGI: 2144177 HomoloGene: 240 GeneCards: PEX12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.[5][6]
Function
PEX12 is needed for protein import into peroxisomes.[7] 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).[6]
Interactions
PEX12 has been shown to interact with PEX10,[8][9] PEX5[8][9] and PEX19.[10][11]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000108733 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000018733 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ 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. PMID 9090384. S2CID 20825062.
- 1 2 "Entrez Gene: PEX12 peroxisomal biogenesis factor 12".
- ↑ Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y (July 1998). "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". Mol. Cell. Biol. 18 (7): 4324–36. doi:10.1128/MCB.18.7.4324. PMC 109016. PMID 9632816.
- 1 2 Chang CC, Warren DS, Sacksteder KA, Gould SJ (November 1999). "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import". J. Cell Biol. 147 (4): 761–74. doi:10.1083/jcb.147.4.761. PMC 2156163. PMID 10562279.
- 1 2 Okumoto 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. PMID 10837480.
- ↑ Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis". J. Cell Biol. 148 (5): 931–44. doi:10.1083/jcb.148.5.931. PMC 2174547. PMID 10704444.
- ↑ Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP (July 2001). "Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences". Mol. Cell. Biol. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. PMC 87101. PMID 11390669.
Further reading
- Okumoto K, Fujiki Y (1997). "PEX12 encodes an integral membrane protein of peroxisomes". Nat. Genet. 17 (3): 265–6. doi:10.1038/ng1197-265. PMID 9354782. S2CID 30206958.
- 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. PMID 9792670.
- Chang CC, Gould SJ (1998). "Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders". Am. J. Hum. Genet. 63 (5): 1294–306. doi:10.1086/302103. PMC 1377540. PMID 9792857.
- South ST, Gould SJ (1999). "Peroxisome Synthesis in the Absence of Preexisting Peroxisomes". J. Cell Biol. 144 (2): 255–66. doi:10.1083/jcb.144.2.255. PMC 2132891. PMID 9922452.
- Chang CC, Warren DS, Sacksteder KA, Gould SJ (1999). "Pex12 Interacts with Pex5 and Pex10 and Acts Downstream of Receptor Docking in Peroxisomal Matrix Protein Import". J. Cell Biol. 147 (4): 761–74. doi:10.1083/jcb.147.4.761. PMC 2156163. PMID 10562279.
- Sacksteder KA, Jones JM, South ST, et al. (2000). "Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis". J. Cell Biol. 148 (5): 931–44. doi:10.1083/jcb.148.5.931. PMC 2174547. PMID 10704444.
- 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. PMID 10837480.
- Fransen M, Wylin T, Brees C, et al. (2001). "Human Pex19p Binds Peroxisomal Integral Membrane Proteins at Regions Distinct from Their Sorting Sequences". Mol. Cell. Biol. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. PMC 87101. PMID 11390669.
- Fransen M, Brees C, Ghys K, et al. (2002). "Analysis of mammalian peroxin interactions using a non-transcription-based bacterial two-hybrid assay". Mol. Cell. Proteomics. 1 (3): 243–52. doi:10.1074/mcp.M100025-MCP200. PMID 12096124.
- Harper CC, Berg JM, Gould SJ (2003). "PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12". J. Biol. Chem. 278 (10): 7897–901. doi:10.1074/jbc.M206651200. PMID 12456682.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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. PMID 14571262.
- 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. PMID 15241794. S2CID 17284974.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- 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. PMID 16813573.
- 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. PMID 17534573.
External links
- GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
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