Dynein axonemal intermediate chain 1 is a protein that in humans is encoded by the DNAI1 gene. [5] [6] The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes.

2024年12月24日 · DNAI1 (Dynein Axonemal Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DNAI1 include Ciliary Dyskinesia, Primary, 1 and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include cytoskeletal motor activity. An important paralog of this gene is DNAI4.

2025年2月8日 · Two dynein genes, encoding ODA intermediate chain (DNAI1) and heavy chain (DNAH5), have been seen to be mutated in approximately 30-38% of the families; DNAI1 gene mutation is not a common cause of primary ciliary dyskinesia.

At least 21 mutations in the DNAI1 gene have been found to cause primary ciliary dyskinesia, which is a condition characterized by respiratory tract infections, abnormal organ placement, and an inability to have children (infertility). DNAI1 gene mutations result in an absent or abnormal intermediate chain 1. Without a normal version of this ...

该基因编码动力蛋白中间链家族的成员。 编码的蛋白质是呼吸纤毛中动力蛋白复合物的一部分。 内臂和外臂动力蛋白在轴丝的双微管之间架起桥梁，是负责轴丝滑动运动的产生力的蛋白质。 中间链和轻链被认为构成动力蛋白臂的基部，有助于介导附着，也可能参与调节动力蛋白活性。 该基因的突变导致与原发性纤毛运动障碍和 Kartagener 综合征相关的纤毛超微结构和功能异常。 可变剪接导致多个转录本变体。 [RefSeq 提供，2013 年 7 月] This gene encodes a member of the …

We undertook a mutation analysis of DNAI1 in a large number of well characterized patients with PCD to test for the correlation of mutations with ciliary ultrastructural defects (ODA versus other defects) and clinical phenotype and to define the prevalence of DNAI1 as …

2024年9月17日 · Title: Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

2024年8月22日 · FUNCTION: Part of the dynein complex of respiratory cilia. SUBUNIT: Consists of at least two heavy chains and a number of intermediate and light chains. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme. DISEASE: Defects in DNAI1 are the cause of primary ciliary dyskinesia type 1 (CILD1) [MIM:244400].

与人类的DNAI1（动力轴偶联中间链1）正交。 [由基因组资源联盟，2022年4月提供] 当前研究发现，Dnai1基因存在1种不同的转录本和1种不同的蛋白质变体。 该模块正在开发中，请耐心等待我们的数据更新。 Lineage-specific biology revealed by a finished genome assembly of the mouse. 预测能够使动力蛋白重链结合活性和动力蛋白轻链结合活性。 预测参与鞭毛精子的活力；胰岛素受体信号通路；和外动力蛋白臂组装。 预测在决定左右对称性、参与细胞外液运动的上皮纤毛运 …

DNAI1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，简述为该基因编码动力蛋白中间链家族的一个成员。 所编码的蛋白质是在呼吸道纤毛的动力蛋白复合物的一部分。 在党内和外臂dyneins，在轴突的双峰的微管之间哪些桥，是负责在轴突的滑动运动的力产生的蛋白质。 中间链和轻链，以为形成动力蛋白臂的基部，有助于调解附着，并且还可以参与调节动力蛋白活性。 突变这个基因导致异常的纤毛超微结构和原发性纤毛运动障碍和卡特金纳综合征相关 …