Disease-gene associations mined from literature

Literature associating WDR72 and amelogenesis imperfecta type 3

WDR72 [ENSP00000379619]

WD repeat-containing protein 72; 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; WD repeat domain containing

Synonyms:  WDR72,  WDR72p,  hWDR72,  H0YKE0,  H0YLX4 ...

Linkouts:  STRING  Pharos  UniProt