Article
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.
Molecular biology of the cell - 1 Nov 2007
Giorgio Giovanna, Alfieri Mariaevelina, Prattichizzo Clelia, Zullo Alessandro, Cairo Stefano, Franco Brunella
Abstract excerpt
Oral-facial-digital (OFD) type I syndrome is an X-linked dominant disease (MIM311200) characterized by malformations of oral cavity, face, and digits and by cystic kidneys. We previously identified OFD1, the gene responsible for this disorder, which encodes for a centrosomal protein with an unknown function. We now report that OFD1 localizes both to the primary cilium and to the nucleus. Moreover, we demonstrate...
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