ⓘ DNAI1

                                     

ⓘ DNAI1

Dynein intermediate chain 1, axonemal is a protein that in humans is encoded by the DNAI1 gene.

Internal and external lever Geneina that the bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help to restore the attachment and may also participate in regulating the activity of the dynein. This gene encodes an intermediate chain dynein, belonging to a large family of motor proteins. Mutations in this gene can result in abnormal ciliary ultrastructure and function associated with PCD, primary ciliary dyskinesia syndrome Kartagener. In the DNAi1 gene for the dynein axonemal intermediate chain 1 gene 1 gene involved in the development of correct breathing, sperm motility, and asymmetric organization of internal organs in embryogenesis. This gene affects these three very different aspects of development, because all three depend on the proper function of cilia. DNAi1 codes for the development of the ultrastructure of the cilia in the upper and lower respiratory tract, the sperm flagellae and cilia, nodal cilia of the primitive node. Specifically DNAi1 encodes an intermediate chain of outer arm dynein. Each dynein arm ciliary; the axoneme has inner and outer arm dynein. Mutation in DNAi1 can lead to defective ciliary beating. And DNAi1 gene mutation accounts for 4-10% of all cases of primary ciliary dyskensia UGC. The most common structural defects in the cilia of PCD patients are abnormal dynein arms. Normal DNAi1 mutation leading to PCD is a hot spot mutation in intron 1 of the gene. Mutations in the coding or splicing can only be found in 10% of cases of PCD.