S. Cases-Palau

SEC22B modulates ClC-5/TMEM9 trafficking and serves as a urinary marker for Dent’s Disease

The Cl − /H + antiporter ClC-5 is a key regulator of renal proximal tubule function, primarily by controlling endosomal acidification. Loss-of-function mutations in ClC-5 cause Dent’s Disease type 1 (DD1), a rare renal tubulopathy that progresses to kidney failure with significan...