Tetratricopeptide repeat protein 12 (TTC12)

Tetratricopeptide repeat protein 12 (TTC12) is a cytoplasmic protein containing three tetratricopeptide repeat (TPR) domains in its N-terminal region and three armadillo repeat domains in its C-terminal region[2][3][6]. TTC12 plays a critical role in the assembly of axonemal dynein arm complexes in motile cilia and sperm flagella, and is implicated in the correct functioning of these structures in respiratory and reproductive tissues[2][3][6][7]. Mutations in TTC12 cause a subset of primary ciliary dyskinesia (PCD), producing defects in dynein arms of both cilia and flagella, manifesting clinically as chronic respiratory infections and male infertility due to impaired sperm motility[2][3]. TTC12 is not classically regarded as a drug target (no approved drugs or targeted therapies are known), but it is a functionally significant gene for genetic and rare disease research, specifically in the study of ciliary disorders[2][3][6].

Other names

TPR repeat protein 12FLJ13859FLJ20535TPARMtetratricopeptide repeat and armadillo repeat proteinCILD45