호모 사피엔스 종의 단백질 코드 유전자
페르옥시좀 생물형성인자 10은 PEX10 [5] [6] 단백질 이다.대체 스플라이싱을 사용하면 서로 다른 Isoform을 인코딩하는 두 개의 전사 변종이 발생합니다.
기능. 페르옥시좀 생물형성인자 10은 페르옥시좀 매트릭스 단백질의 수입에 관여한다. 이 단백질은 과산화염색체막에 [6]
임상적 의의 이 유전자의 돌연변이는 신생아 아드레날레우코디스트로피 에서 젤웨거 [6] 생물 발생 장애의 젤웨거 스펙트럼 내에서 표현형을 발생시킨다.
상호 작용 PEX10은 PEX12 [7] [8] PEX19 와 [9] [10] 것 으로 나타났습니다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000157911 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000029047 - 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 .^ Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ (December 1998). "Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders" . Am J Hum Genet . 63 (2): 347–59. doi :10.1086/301963 . PMC 1377304 PMID 9683594 . ^ a b c "Entrez Gene: PEX10 peroxisome biogenesis factor 10" .^ 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 . ^ 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, Itoh R, Shimozawa N, et al. (1998). "Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B." Hum. Mol. Genet . 7 (9): 1399–405. doi :10.1093/hmg/7.9.1399 PMID 9700193 . 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 . Warren DS, Wolfe BD, Gould SJ (2000). "Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients". Hum. Mutat . 15 (6): 509–21. doi :10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-# . PMID 10862081 . 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 . 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 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Shimozawa N, Nagase T, Takemoto Y, et al. (2004). Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene . Adv. Exp. Med. Biol . Advances in Experimental Medicine and Biology. Vol. 544. p. 71. doi :10.1007/978-1-4419-9072-3_10 . ISBN 978-1-4613-4782-8 PMID 14713216 . 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 . Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature . 437 (7062): 1173–8. Bibcode :2005Natur.437.1173R . doi :10.1038/nature04209 . PMID 16189514 . S2CID 4427026 . Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1" . Nature . 441 (7091): 315–21. Bibcode :2006Natur.441..315G . doi :10.1038/nature04727 PMID 16710414 . 외부 링크
