호모 사피엔스 종의 단백질 코드 유전자
페르옥시좀막단백질 PEX16은 PEX16 유전자에 [5] [6] 단백질 이다.
기능. 이 유전자에 의해 코드된 단백질은 일체형 과산화질막 단백질이다. 이 유전자에 국소화된 불활성 난센스 돌연변이는 보체군 CGD/CG9의 젤웨거 증후군 환자에게서 관찰되었다. 이 유전자 생성물의 발현은 형태학적으로나 생화학적으로 새로운 페르옥시좀의 형성을 회복시켜, 페르옥시좀의 조직과 생물 형성에 대한 역할을 시사한다. 이 유전자에 대한 대체 스플라이싱이 관찰되었고 두 가지 변종이 [6]
상호 작용 PEX16은 PEX19 와 [7] 것 으로 나타났습니다.
레퍼런스 추가 정보 Honsho M, Tamura S, Shimozawa N, et al. (1999). "Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D" . Am. J. Hum. Genet . 63 (6): 1622–30. doi :10.1086/302161 . PMC 1377633 PMID 9837814 . 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 . 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 . Shimozawa N, Nagase T, Takemoto Y, et al. (2002). "A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome". Biochem. Biophys. Res. Commun . 292 (1): 109–12. doi :10.1006/bbrc.2002.6642 . PMID 11890679 . 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 . Honsho M, Hiroshige T, Fujiki Y (2003). "The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly" . J. Biol. Chem . 277 (46): 44513–24. doi :10.1074/jbc.M206139200 PMID 12223482 . 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 . Jones JM, Morrell JC, Gould SJ (2004). "PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins" . J. Cell Biol . 164 (1): 57–67. doi :10.1083/jcb.200304111 . PMC 2171958 PMID 14709540 . 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 . Fransen M, Vastiau I, Brees C, et al. (2005). "Analysis of human Pex19p's domain structure by pentapeptide scanning mutagenesis". J. Mol. Biol . 346 (5): 1275–86. doi :10.1016/j.jmb.2005.01.013 . PMID 15713480 . Brocard CB, Boucher KK, Jedeszko C, et al. (2005). "Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis" . Traffic . 6 (5): 386–95. doi :10.1111/j.1600-0854.2005.00283.x PMID 15813749 . S2CID 24667495 . 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 . Kim PK, Mullen RT, Schumann U, Lippincott-Schwartz J (2006). "The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER" . J. Cell Biol . 173 (4): 521–32. doi :10.1083/jcb.200601036 . PMC 2063862 PMID 16717127 .
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