GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.

Abstract

GALNT3 encodes UDP-N-acetyl-alpha-d-galactosamine: polypeptide N-acetylgalactosaminyl-transferarase 3 (ppGalNacT3), a glycosyltransferase which has been suggested to prevent proteolysis of FGF23, a potent phosphaturic protein. Accordingly, loss-of-function mutations in GALNT3 cause hyperphosphatemic familial tumoral calcinosis (HFTC), a rare autosomal… (More)
DOI: 10.1016/j.bbadis.2008.09.016

Topics

5 Figures and Tables

Cite this paper

@article{Chefetz2009GALNT3AG, title={GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.}, author={Ilana Chefetz and Kimitoshi Kohno and Hiroto Izumi and J Uitto and Gabriele Richard and E Sprecher}, journal={Biochimica et biophysica acta}, year={2009}, volume={1792 1}, pages={61-7} }