Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.

ABSTRACT: Amelogenesis Imperfecta (AI) represents a group of hereditary conditions that manifest tooth enamel defects. Several causative mutations in the WDR72 gene have been identified and patients with WDR72 mutations have brown (or orange-brown) discolored enamel, rough enamel surface, early loss of enamel after tooth eruption, and severe attrition. Although the molecular function of WDR72 is not yet fully understood, a recent study suggested that WDR72 could be a facilitator of endocytic vesicle trafficking, which appears inconsistent with the previously reported cytoplasmic localization of WDR72. Therefore, the aims of our study were to investigate the tissues and cell lines in which WDR72 was expressed and to further determine the sub-cellular localization of WDR72. The expression of Wdr72 gen

SUBMITTER: Husein D 

PROVIDER: S-EPMC8930991 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature