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🧬 基因注释:BCL2A1

📝 官方信息

官方名称:BCL2 related protein A1

功能摘要:This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • CPSF7 综合评分: 0.150 · 证据 2 条
🏥 关联疾病

该基因暂无关联疾病记录

🔗 外部数据库链接