TEKT4
Tektin 4 Gene: A Comprehensive Guide to Structure, Function, and Role in Disease
Description
The tektin 4 gene (TEKT4) encodes a protein called tektin 4 that is essential for the structure and function of microtubules, the cellular scaffold that provides shape and organization to cells. TEKT4 is a component of the microtubule-associated protein (MAP) family and specifically localizes to the axonemal microtubules of motile cilia and flagella, playing a crucial role in ciliary and flagellar motility.
Associated Diseases
Mutations in the TEKT4 gene have been linked to several ciliopathic disorders, including:
- Primary ciliary dyskinesia (PCD): A rare genetic disease characterized by dysfunctional cilia in the respiratory tract and other organs, leading to respiratory infections, infertility, and developmental abnormalities.
- Situs inversus totalis (SIT): A condition in which the major internal organs are mirrored across the midline of the body.
- Kartagener syndrome: A rare autosomal recessive disorder that combines PCD with SIT.
Did you Know ?
- Approximately 1 in 10,000 individuals worldwide is affected by PCD, making it one of the most common ciliopathies.
