PEX12
An Error has occured retrieving Wikidata item for infobox PEX12 (Peroxisomal biogenesis factor 12) هوَ بروتين يُشَفر بواسطة جين PEX12 في الإنسان.[1][2]
الوظيفة
هذا القسم فارغ أو غير مكتمل. ساهم في توسيعه. (يوليو 2018) |
الأهمية السريرية
هذا القسم فارغ أو غير مكتمل. ساهم في توسيعه. (يوليو 2018) |
المراجع
- ^ Chang CC، Lee WH، Moser H، Valle D، Gould SJ (أبريل 1997). "Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders". Nat Genet. ج. 15 ع. 4: 385–8. DOI:10.1038/ng0497-385. PMID:9090384.
- ^ "Entrez Gene: PEX12 peroxisomal biogenesis factor 12". مؤرشف من الأصل في 2010-12-05.
قراءة متعمقة
- Okumoto K، Fujiki Y (1997). "PEX12 encodes an integral membrane protein of peroxisomes". Nat. Genet. ج. 17 ع. 3: 265–6. DOI:10.1038/ng1197-265. PMID:9354782.
- Schrader M، Reuber BE، Morrell JC، وآخرون (1998). "Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli". J. Biol. Chem. ج. 273 ع. 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. ج. 63 ع. 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. ج. 144 ع. 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. ج. 147 ع. 4: 761–74. DOI:10.1083/jcb.147.4.761. PMC:2156163. PMID:10562279.
- Sacksteder KA، Jones JM، South ST، وآخرون (2000). "Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis". J. Cell Biol. ج. 148 ع. 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. ج. 275 ع. 33: 25700–10. DOI:10.1074/jbc.M003303200. PMID:10837480.
- Fransen M، Wylin T، Brees C، وآخرون (2001). "Human Pex19p Binds Peroxisomal Integral Membrane Proteins at Regions Distinct from Their Sorting Sequences". Mol. Cell. Biol. ج. 21 ع. 13: 4413–24. DOI:10.1128/MCB.21.13.4413-4424.2001. PMC:87101. PMID:11390669.
- Fransen M، Brees C، Ghys K، وآخرون (2002). "Analysis of mammalian peroxin interactions using a non-transcription-based bacterial two-hybrid assay". Mol. Cell. Proteomics. ج. 1 ع. 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. ج. 278 ع. 10: 7897–901. DOI:10.1074/jbc.M206651200. PMID:12456682.
- Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. 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. ج. 12 ع. 2: 115–20. DOI:10.1038/sj.ejhg.5201090. PMID:14571262.
- Gootjes J، Schmohl F، Mooijer PA، وآخرون (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. ج. 24 ع. 2: 130–9. DOI:10.1002/humu.20062. PMID:15241794.
- Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
- Mano S، Nakamori C، Nito K، وآخرون (2007). "The Arabidopsis pex12 and pex13 mutants are defective in both PTS1- and PTS2-dependent protein transport to peroxisomes". Plant J. ج. 47 ع. 4: 604–18. DOI:10.1111/j.1365-313X.2006.02809.x. PMID:16813573.
- Zeharia A، Ebberink MS، Wanders RJ، وآخرون (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. ج. 52 ع. 7: 599–606. DOI:10.1007/s10038-007-0157-y. PMID:17534573.