人 EXOSC1 抗体对
01AB00490
Exosome component 1 (EXOSC1), a subunit of the RNA exosome complex, is a conserved protein critical for RNA processing and degradation. Structurally, EXOSC1 comprises 240 amino acids and forms part of the Exo-9 core, essential for the exosome’s 3′-5′ exoribonuclease activity. This complex regulates RNA homeostasis, including rRNA maturation, mRNA surveillance, and small RNA decay. EXOSC1 mutations are linked to autosomal recessive pontocerebellar hypoplasia type 1B, a severe neurodegenerative disorder characterized by cerebellar and pontine atrophy, progressive microcephaly, and motor deficits, often leading to early childhood mortality. Pathogenic variants disrupt exosome assembly, impairing RNA processing and neuronal survival. Additionally, altered EXOSC1 expression is implicated in cancer progression, potentially via dysregulated RNA stability affecting oncogenic pathways.
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技术参数
- 靶点基因名
- EXOSC1
- 基因别名
- CSL4
- 蛋白别名
- exosome component 1; EXOSC1
- UniProt
- Q9Y3B2
- 物种
- Human
产品详情
- 靶点名称
- EXOSC1
- 蛋白名称
- exosome component 1
- 蛋白别名
- Exosome complex component CSL4; Exosome component 1
- 靶点基因名
- EXOSC1
- 基因别名
- CSL4
- UniProt
- Q9Y3B2
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Exosome component 1 (EXOSC1), a subunit of the RNA exosome complex, is a conserved protein critical for RNA processing and degradation. Structurally, EXOSC1 comprises 240 amino acids and forms part of the Exo-9 core, essential for the exosome’s 3′-5′ exoribonuclease activity. This complex regulates RNA homeostasis, including rRNA maturation, mRNA surveillance, and small RNA decay. EXOSC1 mutations are linked to autosomal recessive pontocerebellar hypoplasia type 1B, a severe neurodegenerative disorder characterized by cerebellar and pontine atrophy, progressive microcephaly, and motor deficits, often leading to early childhood mortality. Pathogenic variants disrupt exosome assembly, impairing RNA processing and neuronal survival. Additionally, altered EXOSC1 expression is implicated in cancer progression, potentially via dysregulated RNA stability affecting oncogenic pathways.