TTC7A

Description

TTC7A gene encodes a protein crucial for the assembly and function of cilia, hair-like structures found on the surface of many cells. These cilia are involved in various cellular processes like sensory perception, fluid movement, and cell signaling. Mutations in TTC7A gene disrupt these functions, leading to a range of developmental disorders called ciliopathies. Ciliopathies are a group of genetically heterogeneous disorders characterized by developmental abnormalities affecting multiple organ systems, particularly the brain, kidneys, eyes, and skeleton. TTC7A mutations have been linked to several ciliopathies, including Joubert syndrome, Meckel-Gruber syndrome, and nephronophthisis.

Associated Diseases

• Joubert syndrome
• Meckel-Gruber syndrome
• Nephronophthisis
• Orofaciodigital syndrome type I
• Sensenbrenner syndrome

Did you know?

TTC7A gene is highly conserved across species, suggesting its essential role in cellular function. This means the gene has been preserved throughout evolution, demonstrating its importance.