Abstract Search

ea0015p145 | Diabetes, metabolism and cardiovascular | SFEBES2008

Tamm-Horsfall glycoprotein mutants, which cause familial juvenile hyperuricaemic nephropathy are retained in the endoplasmic reticulum, resulting in delayed maturation and trafficking to the plasma membrane

Williams Sian , Reed Anita , Antignac Corinne , Galvanovskis Juris , Thakker Rajesh

Background: Mutations in the UMOD gene, which encodes the Tamm-Horsfall Glycoprotein (THP), cause FJHN, an autosomal dominant disorder characterised by gout and renal failure. THP is a 640 amino acid glycosylphosphatidylinositol-anchored protein, containing three Epidermal Growth Factor (EGF)-like domains, a cysteine-rich region and a Zona Pelllucida (ZP) domain. THP is translated into the Endoplasmic Reticulum (ER) lumen, glycosylated in the Golgi apparatus, trafficked...

0 shares

Endocrine Abstracts

Tamm-Horsfall glycoprotein mutants, which cause familial juvenile hyperuricaemic nephropathy are retained in the endoplasmic reticulum, resulting in delayed maturation and trafficking to the plasma membrane

BiosciAbstracts