NPHP1 : nephrocystin 1
Description
The NPHP1 gene, provides instructions for creating a protein crucial for the assembly and function of cilia, tiny hair-like structures found on the surface of many cells. These cilia play critical roles in various bodily functions, including sensory perception, fluid transport, and cell signaling. Mutations in NPHP1 can disrupt ciliary function, leading to a range of developmental disorders collectively known as ciliopathies.
Associated Diseases
- Nephronophthisis (NPHP)
- Senior-Løken syndrome
- Joubert syndrome
- Meckel-Gruber syndrome
- Bardet-Biedl syndrome
Did you know?
NPHP1 mutations are particularly prevalent in individuals with autosomal recessive nephronophthisis, a major cause of kidney failure in children.
