SpliceAtlasDB
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🧬 基因注释:TUBGCP4

📝 官方信息

官方名称:tubulin gamma complex component 4

功能摘要:This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015].

🎯 作为靶基因的剪接因子
🏥 关联疾病

该基因暂无关联疾病记录

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