호모 사피엔스 종의 단백질 코드 유전자
시신경 위축 3단백질 은 OPA3유전자 에 [5] [6] [7] 단백질 이다.
「 」를 참조해 주세요. 레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000125741 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000052214 - 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 .^ Nystuen A, Costeff H , Elpeleg ON, Apter N, Bonne-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC (Jul 1997). "Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene" . Hum Mol Genet . 6 (4): 563–9. doi :10.1093/hmg/6.4.563 PMID 9097959 . ^ Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (Nov 2001). "Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews" . Am J Hum Genet . 69 (6): 1218–24. doi :10.1086/324651 . PMC 1235533 PMID 11668429 . ^ "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)" .
추가 정보 Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination" . Genome Res . 10 (11): 1788–95. doi :10.1101/gr.143000 . PMC 310948 PMID 11076863 . Kleta R, Skovby F, Christensen E, et al. (2003). "3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings" . Mol. Genet. Metab . 76 (3): 201–6. doi :10.1016/S1096-7192(02)00047-1 . PMID 12126933 . 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 . GARCIN R, RAVERDY P, DELTHIL S, et al. (1998). "[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms.]". Rev. Neurol. (Paris) . 104 : 373–9. PMID 13703570 . 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 . Reynier P, Amati-Bonneau P, Verny C, et al. (2005). "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract" . J. Med. Genet . 41 (9): e110. doi :10.1136/jmg.2003.016576 . PMC 1735897 PMID 15342707 . 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 . Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline" . Genome Res . 14 (10B): 2136–44. doi :10.1101/gr.2576704 . PMC 528930 PMID 15489336 . Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 PMID 16344560 . Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006" . Nucleic Acids Res . 34 (Database issue): D415–8. doi :10.1093/nar/gkj139 . PMC 1347501 PMID 16381901 . Fink N, Mouallem M (2006). "[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor]". Harefuah . 145 (6): 402–3, 472. PMID 16838891 . 외부 링크
