Uromodulin Human Native protein produced from Human Urine, is a glycosylated polypeptide chain containing having a total Mw of 80 kDa on SDS-PAGE.
The UMOD gene is located on chromosome 16 (16p12.3) in humans . The gene encodes a protein that is initially synthesized as a precursor with a signal peptide, which is cleaved to produce the mature form of the protein . The mature protein has a molecular weight of approximately 85 kDa but can form large aggregates in urine .
Uromodulin plays several critical roles in maintaining urinary and systemic homeostasis . Some of its key functions include:
Mutations in the UMOD gene are associated with a group of inherited kidney diseases, including autosomal dominant tubulointerstitial kidney disease (ADTKD) . Altered expression of uromodulin has also been linked to increased risks of urinary tract infections, kidney stones, hypertension, hyperuricemia, and both acute and chronic kidney diseases .
Despite the extensive research on uromodulin, there are still many aspects of its regulation and function that remain unclear . Ongoing studies aim to better understand how uromodulin is regulated by external and intrinsic factors, how its deficiency leads to various pathophysiological conditions, and how it can be used as a biomarker or therapeutic target to improve patient outcomes .