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Jul 17, 2025 · Complete information for CC2D2A gene (Protein Coding), Coiled-Coil And C2 Domain Containing 2A, including: function, proteins, disorders, pathways, orthologs, and expression.
External links Human CC2D2A genome location and CC2D2A gene details page in the UCSC Genome Browser.
We studied rates of evolutionary change for CC2D2A gene and for domain-encoding regions within CC2D2A, with pairwise comparisons between more closely related species.
该文总结了CC2D2A基因的功能和突变位点,讨论了不同突变导致的纤毛病,并且展望了潜在的治疗方案,为临床预防和治疗CC2D2A基因突变导致的纤毛病提供参考。
Apr 19, 2022 · CC2D2A is a component of a protein complex in the basal body, a ring-like structure that functions in the transition zone at the base of cilia. This complex acts as a barrier to restrict protein diffusi...
该基因编码一种卷曲螺旋和钙结合结构域蛋白，该蛋白似乎在纤毛形成中起着关键作用。 该基因的突变会导致 6 型 Meckel 综合征和 9 型 Joubert 综合征。
CC2D2A基因编码卷曲螺旋和钙结合结构域蛋白，参与纤毛形成。 该基因突变可导致Meckel综合症6型和Joubert综合症9型。 页面提供物种序列对比、转录本、蛋白互作、表达量及疾病模型研究数据。
Dec 27, 2024 · 本文将详细介绍CC2D2A基因的功能与作用机制，包括其在细胞中的具体作用、参与的信号通路、以及与多种疾病的关系。
CC2D2A is defined as a gene that encodes a protein essential for cilia formation, believed to be involved in calcium-dependent membrane targeting, and is associated with ciliopathies such as Meckel-Gruber syndrome and...
CC2D2A的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为该基因编码显示在纤毛的形成起到了关键作用卷曲螺旋和钙结合结构域蛋白。
