Article
The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes.
Kidney international - 1 Aug 2015
Bakey Zeineb, Bihoreau Marie-Thérèse, Piedagnel Rémi, Delestré Laure, Arnould Catherine, de Villiers Alexandre d'Hotman, Devuyst Olivier, Hoffmann Sigrid, Ronco Pierre, Gauguier Dominique, Lelongt Brigitte
Abstract excerpt
The ankyrin repeat and sterile α motif (SAM) domain-containing six gene (Anks6) is a candidate for polycystic kidney disease (PKD). Originally identified in the PKD/Mhm(cy/+) rat model of PKD, the disease is caused by a mutation (R823W) in the SAM domain of the encoded protein. Recent studies support the etiological role of the ANKS6 SAM domain in human cystic diseases, but its function in kidney remains unknown....
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