WDR72

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene.[1] WDR72 contains 7 WD40 repeats, which are predicted to form the blades of a 7 beta propeller structure.

Clinical significance

Mutations in this gene cause autosomal-recessive hypomaturation amelogenesis imperfecta.[2]

References

  1. "Entrez Gene: WD repeat domain 72".
  2. 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.

Further reading