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 Mutations in this gene cause autosomal-recessive hypomaturation amelogenesis imperfecta .[6]
References
^ 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 .
Further reading
Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score" . Mol. Med . 16 (7–8): 247–53. doi :10.2119/molmed.2009.00159 . PMC 2896464 PMID 20379614 . Kamatani Y, Matsuda K, Okada Y, et al. (2010). "Genome-wide association study of hematological and biochemical traits in a Japanese population". Nat. Genet . 42 (3): 210–5. doi :10.1038/ng.531 . PMID 20139978 . S2CID 30790619 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Paterson AD, Waggott D, Boright AP, et al. (2010). "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. doi :10.2337/db09-0653 . PMC 2809960 PMID 19875614 . Köttgen A, Pattaro C, Böger CA, et al. (2010). "New loci associated with kidney function and chronic kidney disease" . Nat. Genet . 42 (5): 376–84. doi :10.1038/ng.568 . PMC 2997674 PMID 20383146 . El-Sayed W, Parry DA, Shore RC, et al. (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 .
