Članovi familije „uvojitih“ proteina su 7-transmembranski receptori za Wnt signalne proteine. FZD4 protein sadrži signalni peptid, cisteinom bogati domen u N-terminalnom ekstracelularnom regionu, 7 transmembranski domen, i C-terminalni PDZ vezujući motiv. FZD9 gen je lociran unutar regiona na hromozomu 7 čije brisanje proizvodi Vilijamsonov sindrom. Heterozigotno brisanje FZD9 gena može da doprinese fenotipu Vilijamsovog sindroma. FZD9 je predominantno izražen u mozgu, testisima, očima, skeletalnim mišićima, i bubrezima.[3]
Reference
↑Wang YK, Samos CH, Peoples R, Perez-Jurado LA, Nusse R, Francke U (May 1997). „A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23”. Hum Mol Genet6 (3): 465–72. DOI:10.1093/hmg/6.3.465. PMID9147651.
↑Wang YK, Sporle R, Paperna T, Schughart K, Francke U (May 1999). „Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome”. Genomics57 (2): 235–48. DOI:10.1006/geno.1999.5773. PMID10198163.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). „The DNA sequence of human chromosome 7”. Nature424 (6945): 157–64. DOI:10.1038/nature01782. PMID12853948.
Omoto S, Hayashi T, Kitahara K, et al. (2004). „Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)”. Ophthalmic Genet.25 (2): 81–90. DOI:10.1080/13816810490514270. PMID15370539.
Winn RA, Marek L, Han SY, et al. (2005). „Restoration of Wnt-7a expression reverses non-small cell lung cancer cellular transformation through frizzled-9-mediated growth inhibition and promotion of cell differentiation”. J. Biol. Chem.280 (20): 19625–34. DOI:10.1074/jbc.M409392200. PMID15705594.
Rual JF, Venkatesan K, Hao T, et al. (2005). „Towards a proteome-scale map of the human protein-protein interaction network”. Nature437 (7062): 1173–8. DOI:10.1038/nature04209. PMID16189514.
Winn RA, Van Scoyk M, Hammond M, et al. (2006). „Antitumorigenic effect of Wnt 7a and Fzd 9 in non-small cell lung cancer cells is mediated through ERK-5-dependent activation of peroxisome proliferator-activated receptor gamma”. J. Biol. Chem.281 (37): 26943–50. DOI:10.1074/jbc.M604145200. PMID16835228.
„Frizzled Receptors: FZD9”. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Arhivirano iz originala na datum 2012-03-19.