Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.

Journal article

Familial juvenile hyperuricaemic nephropathy (FJHN), an autosomal dominant disorder, is caused by mutations in the UMOD gene, which encodes Uromodulin, a glycosylphosphatidylinositol-anchored protein that is expressed in the thick ascending limb of the loop of Henle and excreted in the urine. Uromodulin contains three epidermal growth factor (EGF)-like domains, a cysteine-rich region which includes a domain of eight cysteines and a zona pellucida (ZP) domain. Over 90% of UMOD mutations are mi...

Expand abstract

Authors: Williams, SE; Reed, A; Galvanovskis, J; Antignac, C; Goodship, T

• Publication status: Published
• Journal: Human molecular genetics
• Volume: 18
• Issue: 16
• Pages: 2963-2974
• Publication date: 2009-08-01
• DOI: 10.1093/hmg/ddp235
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Female; Humans; Protein Folding; Mutation, Missense; Mucoproteins; Endoplasmic Reticulum; Uromodulin; Middle Aged; Adult; Male; Hela Cells; Aged; Pedigree; Hyperuricemia; European Continental Ancestry Group; Adolescent; Young Adult; Protein Transport