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.
