External Ids for WDR72 Gene
Previous GeneCards Identifiers for WDR72 Gene
This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
GeneCards Summary for WDR72 Gene
WDR72 (WD Repeat Domain 72) is a Protein Coding gene. Diseases associated with WDR72 include Amelogenesis Imperfecta, Hypomaturation Type, Iia3 and Amelogenesis Imperfecta Hypomaturation Type. An important paralog of this gene is VPS8.
UniProtKB/Swiss-Prot Summary for WDR72 Gene
Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). 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.