C213454Level 5
UMOD wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human UMOD wild-type allele is located in the vicinity of 16p12.3 and is approximately 23 kb in length. This allele, which encodes uromodulin protein, is involved in collecting duct development, glomerular filtration, cytokine-mediated inflammation, uropathogen aggregation and colloid osmotic pressure. Mutations in the gene are associated with autosomal dominant tubulointerstitial kidney disease 1.
**Synonyms:** - ADMCKD2 - ADTKD1 - FJHN - HNFJ - HNFJ1 - MCKD2 - THGP - THP - Uromodulin (Uromucoid, Tamm-Horsfall Glycoprotein) Gene - Uromodulin wt Allele - Uromucoid Gene
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