WD repeat-containing protein 72
Definition:
Plays a major role in formation of tooth enamel. Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.
References:
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[1]. K A Katsura, et al. WDR72 models of structure and function: a stage-specific regulator of enamel mineralization. Matrix Biol. 2014 Sep;38:48-58. [Content Brief]
[2]. Walid El-Sayed, et al. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet. 2009 Nov;85(5):699-705. [Content Brief]
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