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Protein-coding gene in the species Homo sapiens
WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene .[ 5] WD40 repeats , which are predicted to form the blades of a 7 beta propeller structure.
Clinical significance [ edit ] Mutations in this gene cause autosomal-recessive hypomaturation amelogenesis imperfecta .[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000166415 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044976 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Entrez Gene: WD repeat domain 72" .^ El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ (November 2009). "Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta" . Am. J. Hum. Genet . 85 (5): 699–705. doi :10.1016/j.ajhg.2009.09.014 . PMC 2775821 PMID 19853237 .
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