Low-density lipoprotein receptor-related protein 4
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Low-density lipoprotein receptor-related protein 4 (LRP-4), also known as multiple epidermal growth factor-like domains 7 (MEGF7), is a protein that in humans is encoded by the LRP4 gene.[3][4] LRP-4 is a member of the Lipoprotein receptor-related protein family and may be a regulator of Wnt signaling.
Clinical significance
Mutations in this gene are associated with Cenani Lenz syndactylism.[5]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "Entrez Gene: low density lipoprotein receptor-related protein 4".
- ↑ Nakayama M, Nakajima D, Nagase T, Nomura N, Seki N, Ohara O (Jul 1998). "Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening". Genomics. 51 (1): 27–34. doi:10.1006/geno.1998.5341. PMID 9693030.
- ↑ Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B (May 2010). "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome". American Journal of Human Genetics. 86 (5): 696–706. doi:10.1016/j.ajhg.2010.03.004. PMC 2869043
. PMID 20381006.
Further reading
- Nakayama M, Kikuno R, Ohara O (Nov 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
- Jeong YH, Ishikawa K, Someya Y, Hosoda A, Yoshimi T, Yokoyama C, Kiryu-Seo S, Kang MJ, Tchibana T, Kiyama H, Fukumura T, Kim DH, Saeki S (Jan 2010). "Molecular characterization and expression of the low-density lipoprotein receptor-related protein-10, a new member of the LDLR gene family". Biochemical and Biophysical Research Communications. 391 (1): 1110–5. doi:10.1016/j.bbrc.2009.12.033. PMID 20005200.
- Simon-Chazottes D, Tutois S, Kuehn M, Evans M, Bourgade F, Cook S, Davisson MT, Guénet JL (May 2006). "Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse". Genomics. 87 (5): 673–7. doi:10.1016/j.ygeno.2006.01.007. PMID 16517118.
- Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, Gudbjartsson DF, Walters GB, Ingvarsson T, Jonsdottir T, Saemundsdottir J, Snorradóttir S, Center JR, Nguyen TV, Alexandersen P, Gulcher JR, Eisman JA, Christiansen C, Sigurdsson G, Kong A, Thorsteinsdottir U, Stefansson K (Jan 2009). "New sequence variants associated with bone mineral density". Nature Genetics. 41 (1): 15–7. doi:10.1038/ng.284. PMID 19079262.
- Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B (May 2010). "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome". American Journal of Human Genetics. 86 (5): 696–706. doi:10.1016/j.ajhg.2010.03.004. PMC 2869043. PMID 20381006.
- Liu JM, Zhang MJ, Zhao L, Cui B, Li ZB, Zhao HY, Sun LH, Tao B, Li M, Ning G (Sep 2010). "Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women". The Journal of Clinical Endocrinology and Metabolism. 95 (9): E112–20. doi:10.1210/jc.2009-2768. PMID 20554715.
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