호모 사피엔스 종의 단백질 코드 유전자
AF4/FMR2 패밀리 멤버 1은 AFF1 [5] [6] [7] [8] 유전자에 의해 인체 내 에서 부호화되는 단백질 이다.그 장소에는 별도의 PBM1 유전자에 대한 기록이 있었으며, 이후 이 유전자는 철회되어 가명으로 간주되었다. 그것은 이전에 AF4 로 알려져 있었다.[8]
이 유전자는 RNA 신장을 촉진하는 핵전사 활성제 그룹인 AF4/FMR2(AFF) 계열 의 구성원이다. 그것은 초신장 [9] 복합체의 구성요소이다.백혈병과 관련 된 염색체 전위는 이 유전자를 KMT2A 와 같은 다른 유전자와 융합시켜 통제되지 않는 활성제 [5] 단백질을 생성한다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000172493 - 앙상블 , 2017년 5월 ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000029313 - 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 . ^ a b Domer PH, Fakharzadeh SS, Chen CS, Jockel J, Johansen L, Silverman GA, Kersey JH, Korsmeyer SJ (August 1993). "Acute mixed-lineage leukemia t(4;11)(q21;q23) generates an MLL-AF4 fusion product" . Proceedings of the National Academy of Sciences of the United States of America . 90 (16): 7884–8. Bibcode :1993PNAS...90.7884D . doi :10.1073/pnas.90.16.7884 . PMC 47247 . PMID 7689231 . ^ Gu Y, Nakamura T, Alder H, Prasad R, Canaani O, Cimino G, Croce CM, Canaani E (November 1992). "The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene". Cell . 71 (4): 701–8. doi :10.1016/0092-8674(92)90603-A . PMID 1423625 . S2CID 6257922 . ^ Chen CS, Hilden JM, Frestedt J, Domer PH, Moore R, Korsmeyer SJ, Kersey JH (August 1993). "The chromosome 4q21 gene (AF-4/FEL) is widely expressed in normal tissues and shows breakpoint diversity in t(4;11)(q21;q23) acute leukemia" . Blood . 82 (4): 1080–5. doi :10.1182/blood.V82.4.1080.bloodjournal8241080 . PMID 8353274 . ^ a b "Entrez Gene: AFF1 AF4/FMR2 family, member 1" . ^ Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B (May 2011). "Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability" . Human Molecular Genetics . 20 (10): 1873–85. doi :10.1093/hmg/ddr069 . PMID 21330300 . 외부 링크
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