IFT81

Description

The IFT81 gene, also known as TTC12, encodes a protein essential for the assembly and function of cilia, microscopic hair-like structures found on the surface of many cells. These cilia play crucial roles in sensory perception, cell signaling, and fluid movement, making IFT81 a critical gene for various biological processes. Mutations in IFT81 can lead to a spectrum of disorders affecting different organs and systems, highlighting its importance in human health.

Associated Diseases

• Bardet-Biedl Syndrome (BBS)
• Joubert Syndrome
• Sensenbrenner Syndrome
• Orofaciodigital Syndrome Type I (OFD1)
• Nephronophthisis
• Meckel-Gruber Syndrome
• Alström Syndrome
• Senior-Løken Syndrome

Did you know?

IFT81 mutations are often associated with various ciliopathies, a group of genetic disorders characterized by defects in cilia structure or function.