WDR72
| WDR72 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 15: 53.51 – 53.76 Mb | Chr 9: 74.02 – 74.19 Mb | ||||
| PubMed search | [3] | [4] | ||||
| View/Edit Human | View/Edit Mouse |
WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene.[5] 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.[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".
- 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. 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. 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. 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. PMID 14702039.
- Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 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. 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. 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. PMID 19853237.
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