WDR72 Is Required for Urinary Acidification and Normal H⁺-ATPase Activity in Intercalated Cells in Mice.

ABSTRACT:

Aim

Biallelic inactivating WDR72 variants are linked to distal renal tubular acidosis (dRTA), nephrocalcinosis, and amelogenesis imperfecta. The kidney shows high WDR72 expression; its precise localization and function remain unclear. WDR72 is a member of the WD40 repeat domain protein family-a large group of scaffold proteins involved in various pathways, including vesicular trafficking-which has been suggested as a potential role for WDR72. This study investigates WDR72 expression and its role in renal acid-base homeostasis.

Methods

We analyzed WDR72/Wdr72 expression in single-cell transcriptome data from human and murine kidneys. We characterized Wdr72^-/- female and male mice and assessed Wdr72 mRNA and protein localization, the ability of the kidney to excrete

SUBMITTER: Auwerx H 

PROVIDER: S-EPMC12869471 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature