호모 사피엔스 종의 단백질 코드 유전자
번역개시인자 eIF-2B 서브유닛 델타는 EIF2B4 [5] [6] [7] 유전자 에 의해 인체 내에서 암호화되는 단백질 이다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000115211 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000029145 - 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 .^ Price NT, Mellor H, Craddock BL, Flowers KM, Kimball SR, Wilmer T, Jefferson LS, Proud CG (Nov 1996). "eIF2B, the guanine nucleotide-exchange factor for eukaryotic initiation factor 2. Sequence conservation between the alpha, beta and delta subunits of eIF2B from mammals and yeast" . Biochem. J . 318 (2): 637–43. doi :10.1042/bj3180637 . PMC 1217679 PMID 8929216 . ^ Henderson RA, Krissansen GW, Yong RY, Leung E, Watson JD, Dholakia JN (Dec 1994). "The delta-subunit of murine guanine nucleotide exchange factor eIF-2B. Characterization of cDNAs predicts isoforms differing at the amino-terminal end" . J. Biol. 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"Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation" . Mol. Cell. Biol . 20 (11): 3965–76. doi :10.1128/MCB.20.11.3965-3976.2000 . PMC 85753 PMID 10805739 . Anthony TG, Fabian JR, Kimball SR, Jefferson LS (2000). "Identification of domains within the epsilon-subunit of the translation initiation factor eIF2B that are necessary for guanine nucleotide exchange activity and eIF2B holoprotein formation". Biochim. Biophys. Acta . 1492 (1): 56–62. doi :10.1016/S0167-4781(00)00062-2 . PMID 10858531 . Hu RM, Han ZG, Song HD, et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning" . Proc. Natl. Acad. Sci. U.S.A . 97 (17): 9543–8. doi :10.1073/pnas.160270997 PMC 16901 PMID 10931946 . Williams DD, Price NT, Loughlin AJ, Proud CG (2001). "Characterization of the mammalian initiation factor eIF2B complex as a GDP dissociation stimulator protein" . J. Biol. Chem . 276 (27): 24697–703. doi :10.1074/jbc.M011788200 PMID 11323413 . van der Knaap MS, Leegwater PA, Könst AA, et al. (2002). "Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter". Ann. Neurol . 51 (2): 264–70. doi :10.1002/ana.10112 . PMID 11835386 . S2CID 1849575 . 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 . Fogli A, Dionisi-Vici C, Deodato F, et al. (2003). "A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation". Neurology . 59 (12): 1966–8. doi :10.1212/01.wnl.0000041666.76863.47 . PMID 12499492 . S2CID 13129517 . Kobayashi H, Børsheim E, Anthony TG, et al. (2003). "Reduced amino acid availability inhibits muscle protein synthesis and decreases activity of initiation factor eIF2B". Am. J. Physiol. Endocrinol. Metab . 284 (3): E488–98. doi :10.1152/ajpendo.00094.2002 . PMID 12556349 . Fogli A, Rodriguez D, Eymard-Pierre E, et al. (2003). "Ovarian failure related to eukaryotic initiation factor 2B mutations" . Am. J. Hum. Genet . 72 (6): 1544–50. doi :10.1086/375404 . PMC 1180314 PMID 12707859 . van der Knaap MS, van Berkel CG, Herms J, et al. (2004). "eIF2B-related disorders: antenatal onset and involvement of multiple organs" . Am. J. Hum. Genet . 73 (5): 1199–207. doi :10.1086/379524 . PMC 1180499 PMID 14566705 . Fogli A, Schiffmann R, Hugendubler L, et al. (2005). "Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients" . Eur. J. Hum. Genet . 12 (7): 561–6. doi :10.1038/sj.ejhg.5201189 PMID 15054402 . Li W, Wang X, Van Der Knaap MS, Proud CG (2004). "Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways" . Mol. Cell. Biol . 24 (8): 3295–306. doi :10.1128/MCB.24.8.3295-3306.2004 . PMC 381664 PMID 15060152 . Van Haren K, van der Voorn JP, Peterson DR, et al. (2004). "The life and death of oligodendrocytes in vanishing white matter disease" . J. Neuropathol. Exp. Neurol . 63 (6): 618–30. doi :10.1093/jnen/63.6.618 PMID 15217090 . 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 . Fogli A, Gauthier-Barichard F, Schiffmann R, et al. (2004). "Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure" . 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