Tetratricopeptide repeat domain 9C (TTC9C)

Tetratricopeptide repeat domain 9C (TTC9C) is a protein encoded by the TTC9C gene in humans and found across species, characterized by the presence of tetratricopeptide repeats (structural motifs of ~34 amino acids facilitating protein-protein interactions)[2][3][4]. TTC9C functions primarily as a scaffold for protein interactions and plays important roles in cilium assembly, left/right asymmetry of the heart, and otolith morphogenesis[1][5]. It has been specifically implicated in intraflagellar transport processes in ciliogenesis and associates with components of the IFT complexes and BBSome, which are essential for cilia formation and motility[5]. Loss of function mutations in TTC9C orthologs in model organisms lead to ciliopathy-like developmental defects, but evidence for direct involvement in human disease remains limited[1][5]. There are currently no approved drugs targeting TTC9C, and it is not considered a standard therapeutic target.

Other names

Tetratricopeptide repeat domain 9CTetratricopeptide repeat protein 9CTPR repeat protein 9CMGC29649TTC9C2210019E14RIK6330408J23RikRGD1359253