功能Not known. May play a role in regulating the circulating activity of cytokines as it binds to IL-1, IL-2 and TNF with high affinity.
组织特异性Synthesized by kidney. Most abundant protein in normal human urine.
疾病相关Defects in UMOD are the cause of familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]. HNFJ1 is a renal disease characterized by juvenil onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis. Defects in UMOD are the cause of medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]. MCKD2 is a form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade. Defects in UMOD are the cause of glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886]. GCKDHI is a renal disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due to low fractional excretion of uric acid and severe impairment of urine concentrating ability.