A New Heterozygous Mutation (R714C) of the Osteopetrosis Gene, <i>Pleckstrin Homolog Domain Containing Family M (With Run Domain) Member 1 (PLEKHM1)</i>, Impairs Vesicular Acidification and Increases TRACP Secretion in Osteoclasts

Abstract excerpt

UNLABELLED: We studied phenotypic and cellular aspects in a patient with a heterozygous mutation of the PLEKHM1 gene and obtained some indications regarding the role of the protein in bone cell function. Plekhm1 is involved in osteoclast endosomal vesicle acidification and TRACP exocytosis, contributing to events involved in osteoclast-osteoblast cross-talk. INTRODUCTION: The gene PLEKHM1 encodes a nonsecretory...

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