UMOD

UMOD encodes uromodulin, also known as Tamm - Horsfall protein. Uromodulin is the most abundant protein in normal human urine. It plays a crucial role in the renal defense mechanism by protecting the kidney from infection and crystal formation. It is also involved in the Wnt/β - catenin signaling pathway.
Mutations in UMOD are associated with autosomal dominant tubulointerstitial kidney diseases, like medullary cystic kidney disease type 2. In terms of drug development, research is underway to target uromodulin - related pathways for treating these kidney diseases, aiming to slow down disease progression and improve patients' renal function.