인간의 단백질 코드 유전자
페르옥시좀 조립단백질 12는 PEX12 [5] [6] 유전자 에 의해 인체 내에서 암호화되는 단백질 이다.
기능. PEX12는 단백질을 퍼옥시좀으로 [7] 이 유전자는 페록신-12 계열에 속한다. 페르옥신 (PEX)은 기능성 페르옥시좀의 조립에 필수적인 단백질이다.
임상적 의의 페르옥시좀 생물형성장애 (PBD; MIM 601539)는 유전적으로 이질적인 질병으로 보통 유아기에 치명적이다.PBD 환자의 임상적 특징은 다르지만, 모든 PBD 환자의 세포는 하나 이상의 등급의 퍼옥시좀 매트릭스 단백질을 소기관으로 가져오는 데 결함을 보인다. 이 세포 표현형은 효모 '펙스' 돌연변이와 일부 PBD 보완 그룹(CG)[6]
상호 작용 PEX12는, PEX10,[8] [9] PEX5 [8] [9] PEX19 [10] [11] 나타내고 있습니다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000108733 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000018733 - 앙상블 , 2017년 5월^ "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 . ^ a b "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 . ^ a b 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 . ^ a b 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 .
추가 정보 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. 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 . 외부 링크
