Protein 2 ranog odgovora na rast je protein koji je kod ljudikodirangenomEGR2. EGR2 (znan i kao Krox20) je transkripcijski faktor regulacije, sa tri mjesta vezanjaDNKcinkovog prsta, izrazito eksprimiran u populaciji migrirajućih ćelija nervnog grebena.[5][6][7] Kasnije se eksprimira u neuronskim ćelijama kranijalne ganglije izvedene iz grebena. Protein kodiran pomoću Krox20 sadrži dva cinkova prsta tipa cys2his2. Ekspresija Krox20 gena ograničena je na rani razvoj stražnjeg mozga.[6][8] Evolucijski je konzerviran kod kičmenjaka, uključujuči ljude, miševe, kokoši i zebrice.[9] Osim toga, aminokiselinska sekvenca i većina aspekata uzorka embrionskog gena konzervirani su kod kičmenjaka, što dodatno implicira njegovu ulogu u razvoju stražnjeg mozga.[7][10][11][12] Kada se
Krox20 deletira na miševima, sposobnost kodiranja proteina gena Krox20 (uključujući domen vezanja DNK cinkovog prsta) se smanjuje. Ovi miševi ne mogu preživjeti nakon rođenja i pokazuju velike nedostatke stražnjeg mozga.[6][8] Ovi nedostaci uključuju, ali nisu ograničeni na nedostatke u formiranju kranijalnih čulnihih ganglija, djelimičnu fuziju trigeminusog živca (V) s facijalnim (VII) i slušnim (VII) živcima, proksimalni korijeni živaca koji izlaze iz ovih ganglija bili su neorganizirani i isprepleteni jedni s drugima pri ulasku u moždano stablo, a došlo je i do spajanja glosofaringeusog (IX) nervnog kompleksa.[13][14][15]
Protein 2 za odgovor na rani rast je transkripcijski faktor s tri tandemska cinkova prsta tipa C2H2. Mutacije u ovom genu povezane su s autosomno dominantnom Charcot-Marie-Toothovom bolesti, tip 1D,[17] Dejerine–Sottasovom bolesti,[18] i kongenitalnom hipomijelinacijskom neuropatijom.[19] Dvije studije povezale su ekspresiju "EGR2" sa proliferacijom osteoprogenitora[20] i ćelijske linije izvedene iz Ewingovog sarkoma, koji je visoko agresivan rak povezan s kostima.[21]
^ abBradley LC, Snape A, Bhatt S, Wilkinson DG (januar 1993). "The structure and expression of the Xenopus Krox-20 gene: conserved and divergent patterns of expression in rhombomeres and neural crest". Mechanisms of Development. 40 (1–2): 73–84. doi:10.1016/0925-4773(93)90089-g. PMID8443108. S2CID20347966.
^Bhat RV, Worley PF, Cole AJ, Baraban JM (april 1992). "Activation of the zinc finger encoding gene krox-20 in adult rat brain: comparison with zif268". Brain Research. Molecular Brain Research. 13 (3): 263–6. doi:10.1016/0169-328x(92)90034-9. PMID1317498.
^Hunt P, Gulisano M, Cook M, Sham MH, Faiella A, Wilkinson D, Boncinelli E, Krumlauf R (oktobar 1991). "A distinct Hox code for the branchial region of the vertebrate head". Nature. 353 (6347): 861–4. Bibcode:1991Natur.353..861H. doi:10.1038/353861a0. PMID1682814. S2CID4312466.
^Frohman MA, Boyle M, Martin GR (oktobar 1990). "Isolation of the mouse Hox-2.9 gene; analysis of embryonic expression suggests that positional information along the anterior-posterior axis is specified by mesoderm". Development. 110 (2): 589–607. doi:10.1242/dev.110.2.589. PMID1983472.
^Nieto MA, Bradley LC, Wilkinson DG (1991). "Conserved segmental expression of Krox-20 in the vertebrate hindbrain and its relationship to lineage restriction". Development. Suppl 2: 59–62. doi:10.1242/dev.113.Supplement_2.59. hdl:10261/32226. PMID1688180.
^Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (juli 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics. 3 (3): 153–7. doi:10.1007/s100480100107. PMID11523566. S2CID32746701.
^Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (april 1998). "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nature Genetics. 18 (4): 382–4. doi:10.1038/ng0498-382. PMID9537424. S2CID25550479.
Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (april 1998). "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nature Genetics. 18 (4): 382–4. doi:10.1038/ng0498-382. PMID9537424. S2CID25550479.
Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (juni 1999). "Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype". Neurology. 52 (9): 1827–32. doi:10.1212/wnl.52.9.1827. PMID10371530. S2CID11569651.
Bellone E, Di Maria E, Soriani S, Varese A, Doria LL, Ajmar F, Mandich P (oktobar 1999). "A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease". Human Mutation. 14 (4): 353–4. doi:10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4. PMID10502832.
Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A (april 2000). "Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation". Neurology. 54 (8): 1696–8. doi:10.1212/wnl.54.8.1696. hdl:2434/531868. PMID10762521. S2CID28404231.
Yoshihara T, Kanda F, Yamamoto M, Ishihara H, Misu K, Hattori N, Chihara K, Sobue G (mart 2001). "A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1". Journal of the Neurological Sciences. 184 (2): 149–53. doi:10.1016/S0022-510X(00)00504-9. PMID11239949. S2CID19693658.
Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (juli 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics. 3 (3): 153–7. doi:10.1007/s100480100107. PMID11523566. S2CID32746701.
Musso M, Balestra P, Taroni F, Bellone E, Mandich P (februar 2003). "Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter". Neurobiology of Disease. 12 (1): 89–95. doi:10.1016/S0969-9961(02)00018-9. PMID12609493. S2CID29600641.
Numakura C, Shirahata E, Yamashita S, Kanai M, Kijima K, Matsuki T, Hayasaka K (juni 2003). "Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1". Journal of the Neurological Sciences. 210 (1–2): 61–4. doi:10.1016/S0022-510X(03)00028-5. PMID12736090. S2CID36723641.