FEATURES

DESCRIPTION

Also known as UROM_HUMAN, UMOD. 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 (PubMed:3498215). Facilitates neutrophil migration across renal epithelia (PubMed:20798515)., In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract infection and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals. Homodimer that then polymerizes into long filaments (PubMed:19005207, PubMed:26673890, PubMed:26811476, PubMed:32815518, PubMed:33196145). The filaments can additionally assemble laterally to form a sheet (PubMed:33196145).

EXTERNAL LINKS

UMOD

Mutations

Mutation(s) distribution

Mutations table