NPHP5

NPHP5 refers to the gene Nephronophthisis 5. This gene encodes a protein that is essential for the development and function of cilia, which are hair-like structures found on the surface of many cells. Cilia play crucial roles in cell signaling, movement, and development. Mutations in the NPHP5 gene can lead to a disorder called nephronophthisis, a type of cystic kidney disease. Nephronophthisis is characterized by progressive kidney damage, leading to kidney failure. Symptoms can include increased thirst, frequent urination, and poor growth in children. While primarily affecting the kidneys, NPHP5 mutations can also impact other organs, including the eyes, potentially causing vision problems like retinitis pigmentosa. The inheritance pattern for NPHP5-related disorders is typically autosomal recessive, meaning an individual must inherit two copies of the mutated gene, one from each parent, to be affected. Research into NPHP5 and related genes aims to understand the underlying mechanisms of ciliary dysfunction and to develop potential therapeutic strategies for these genetic disorders.