SUFU是抑癌基因,编码蛋白是融合蛋白的抑制因子,属于Hedgehog信号通路的一部分,也是胚胎发育中的关键调节因子之一。SUFU可以在细胞质中螯合抑制其活性的GLI转录因子。SUFU可以通过从细胞核中输出β-连环蛋白来抑制Wnt信号转导,它也可以作为Hedgehog和p63途径之间的相互作用点,这可能是角质形成细胞分化调节的重要部分。SUFU突变与儿童髓母细胞瘤密切相关。SUFU的胚系突变可以引起Gorlin综合征。
SUFU encodes the protein suppressor of fused which is part of the hedgehog signaling pathway, one of the key regulators of embryonic development. SUFU can sequester GLI transcription factors in the cytoplasm repressing their activity. SUFU can repress Wnt signaling by exporting beta-catenin from the nucleus it also can serve as a point of interaction between the hedgehog and p63 pathways which may be an important part of the regulation of keratinocyte differentiation. SUFU is a tumor-suppressor in which truncating germline or somatic mutations, often accompanied by loss of the wildtype allele, are strongly associated with pediatric medulloblastoma. Germline mutations in SUFU can cause Gorlin syndrome. No drugs specifically target SUFU although there are drugs that target the hedgehog signaling pathway.
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