Low-density lipoprotein receptor-related protein 4
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]
References
- ↑ "Entrez Gene: low density lipoprotein receptor-related protein 4".
- ↑ Nakayama M, Nakajima D, Nagase T, Nomura N, Seki N, Ohara O (July 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, et al. (May 2010). "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome". Am. J. Hum. Genet. 86 (5): 696–706. doi:10.1016/j.ajhg.2010.03.004. PMC 2869043. PMID 20381006.
Further reading
- Nakayama M, Kikuno R, Ohara O (2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
- Jeong YH, Ishikawa K, Someya Y, et al. (2010). "Molecular characterization and expression of the low-density lipoprotein receptor-related protein-10, a new member of the LDLR gene family.". Biochem. Biophys. Res. Commun. 391 (1): 1110–5. doi:10.1016/j.bbrc.2009.12.033. PMID 20005200.
- Simon-Chazottes D, Tutois S, Kuehn M, et al. (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.
- 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.
- Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, et al. (2009). "New sequence variants associated with bone mineral density.". Nat. Genet. 41 (1): 15–7. doi:10.1038/ng.284. PMID 19079262.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Li Y, Pawlik B, Elcioglu N, et al. (2010). "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.". Am. J. Hum. Genet. 86 (5): 696–706. doi:10.1016/j.ajhg.2010.03.004. PMC 2869043. PMID 20381006.
- Liu JM, Zhang MJ, Zhao L, et al. (2010). "Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women.". J. Clin. Endocrinol. Metab. 95 (9): E112–20. doi:10.1210/jc.2009-2768. PMID 20554715.
- Taylor TD, Noguchi H, Totoki Y, et al. (2006). "Human chromosome 11 DNA sequence and analysis including novel gene identification.". Nature 440 (7083): 497–500. doi:10.1038/nature04632. PMID 16554811.
References
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