DNALI1 Human
Description
Product Specs
Dynein Axonemal Light Intermediate Chain 1, also known as DNALI1, is a member of the inner dynein arm light chain family. DNALI1 plays a dynamic role in flagellar motility. It is the human homolog of the Chlamydomonas inner dynein arm gene, p28. While the precise function of DNALI1 remains to be fully elucidated, it is considered a potential candidate gene for immotile cilia syndrome. Additionally, DNALI1 has been linked to diseases such as primary ciliary dyskinesia and Huntington's disease. Patients with ICS often exhibit ultrastructural defects in the inner dynein arms, similar to the defects observed in immotile mutant strains of Chlamydomonas, a type of biflagellated algae.
Product Science Overview
The DNALI1 gene is located on chromosome 1 and encodes a protein that is part of the dynein complex in respiratory cilia . Dyneins are motor proteins that convert chemical energy stored in ATP into mechanical work, which is essential for the movement of cilia and flagella. The dynein complex consists of multiple subunits, including heavy chains, intermediate chains, light intermediate chains, and light chains .
The primary function of DNALI1 is associated with the assembly and function of the inner dynein arms in cilia and flagella . These structures are essential for the motility of sperm cells and the movement of respiratory cilia, which help clear mucus and debris from the respiratory tract . Mutations in the DNALI1 gene can lead to defects in ciliary structure and function, resulting in conditions such as primary ciliary dyskinesia (PCD) .
Mutations in the DNALI1 gene have been linked to several diseases, including primary ciliary dyskinesia (PCD) and spermatogenic failure . PCD is a rare genetic disorder characterized by chronic respiratory tract infections, abnormal organ positioning, and infertility due to defective ciliary motility . Accurate quantitation of DNALI1 protein levels in tissues is crucial for understanding its role in these diseases and developing potential therapies .
Recombinant DNALI1 protein is used in various research applications to study its function and role in diseases. For instance, it is used in immunoprecipitation and mass spectrometry-based assays to quantify its expression levels in tissues . These studies help in understanding the molecular mechanisms underlying ciliary dysfunction and developing targeted therapies for related diseases .
