WDR72

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WDR72
Identifiers
Aliases WDR72, AI2A3, WD repeat domain 72
External IDs MGI: 3583957 HomoloGene: 52326 GeneCards: WDR72
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001277176
NM_182758

NM_001033500
NM_177908

RefSeq (protein)

NP_001264105
NP_877435

NP_001028672

Location (UCSC) Chr 15: 53.51 – 53.76 Mb Chr 9: 74.11 – 74.28 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene.[3] WDR72 contains 7 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.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: WD repeat domain 72". 
  4. ^ 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 2775821Freely accessible. PMID 19853237. 

Further reading[edit]