SpliceAtlasDB
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🧬 基因注释:ZCCHC8

📝 官方信息

官方名称:zinc finger CCHC-type containing 8

功能摘要:This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, together with hMTR4 and the RNA-binding factor RBM7 which promotes the exosomal degradation of non-coding promoter-upstream transcripts, enhancer RNAs and 3'-extended products of histone- and small nuclear RNA transcription. This complex is also thought to recruit the exosome to degrade intronic RNAs via its interaction with both the exosome and the spliceosome. It contains both an N-terminal zinc-knuckle domain and a C-terminal proline-rich domain. [provided by RefSeq, Apr 2017].

🎯 作为靶基因的剪接因子
🏥 关联疾病
pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5
(0.523)
neurodegenerative disease
(0.460)
dyskeratosis congenita
(0.355)
inherited aplastic anemia
(0.333)
glomerulonephritis
(0.268)
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🔗 外部数据库链接