DISEASES

Disease-gene associations mined from literature

Literature associating UMOD and Fabry disease

UMOD [ENSP00000379438]

Uromodulin, secreted form; [Uromodulin]: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF . Facilitates neutrophil migration across renal epithelia .

Synonyms:  UMOD,  I3L1M3,  I3L2J2,  I3L2K2,  I3L3E0 ...

Linkouts:  STRING  Pharos  UniProt