Low-density lipoprotein receptor-related protein 4 explained

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.^{[1] [2]} 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.^[3]

Autoantibodies against LRP4 have been connected to a small fraction of myasthenia gravis cases.

References

Further reading

• Nakayama M, Kikuno R, Ohara O . Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs . Genome Research . 12 . 11 . 1773–84 . Nov 2002 . 12421765 . 187542 . 10.1101/gr.406902 .
• 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 . 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 . Jan 2010 . 20005200 . 10.1016/j.bbrc.2009.12.033 .
• Simon-Chazottes D, Tutois S, Kuehn M, Evans M, Bourgade F, Cook S, Davisson MT, Guénet JL . Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse . Genomics . 87 . 5 . 673–7 . May 2006 . 16517118 . 10.1016/j.ygeno.2006.01.007 .
• 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 . New sequence variants associated with bone mineral density . Nature Genetics . 41 . 1 . 15–7 . Jan 2009 . 19079262 . 10.1038/ng.284 . 9876454 .
• 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 . 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 . May 2010 . 20381006 . 2869043 . 10.1016/j.ajhg.2010.03.004 .
• Liu JM, Zhang MJ, Zhao L, Cui B, Li ZB, Zhao HY, Sun LH, Tao B, Li M, Ning G . Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women . The Journal of Clinical Endocrinology and Metabolism . 95 . 9 . E112-20 . Sep 2010 . 20554715 . 10.1210/jc.2009-2768 . free .

Notes and References

1. Web site: Entrez Gene: low density lipoprotein receptor-related protein 4.
2. Nakayama M, Nakajima D, Nagase T, Nomura N, Seki N, Ohara O . Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening . Genomics . 51 . 1 . 27–34 . Jul 1998 . 9693030 . 10.1006/geno.1998.5341 .
3. 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 . 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 . May 2010 . 20381006 . 2869043 . 10.1016/j.ajhg.2010.03.004 .