WDR72 explained

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]

Further reading

• Rose JE, Behm FM, Drgon T, etal . Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . Mol. Med. . 16 . 7–8 . 247–53 . 2010. 20379614 . 10.2119/molmed.2009.00159 . 2896464.
• Kamatani Y, Matsuda K, Okada Y, etal . Genome-wide association study of hematological and biochemical traits in a Japanese population . Nat. Genet. . 42 . 3 . 210–5 . 2010 . 20139978 . 10.1038/ng.531 . 30790619 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928.
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1996 . 8889548 . 10.1101/gr.6.9.791. free .
• Paterson AD, Waggott D, Boright AP, etal . A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose . Diabetes . 59 . 2 . 539–49 . 2010 . 19875614 . 10.2337/db09-0653 . 2809960 .
• Köttgen A, Pattaro C, Böger CA . New loci associated with kidney function and chronic kidney disease . Nat. Genet. . 42 . 5 . 376–84 . 2010 . 20383146 . 10.1038/ng.568 . 2997674 . etal.
• El-Sayed W, Parry DA, Shore RC, etal . Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta . Am. J. Hum. Genet. . 85 . 5 . 699–705 . 2009 . 19853237 . 10.1016/j.ajhg.2009.09.014 . 2775821.

Notes and References

1. Web site: 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 . Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta . Am. J. Hum. Genet. . 85 . 5 . 699–705 . November 2009 . 19853237 . 2775821 . 10.1016/j.ajhg.2009.09.014 .