LDL receptor related protein 5
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The LRP5 gene provides instructions for making a protein that is embedded in the outer membrane of many types of cells. This protein is known as a co-receptor because it works with another receptor protein, frizzled-4 (produced from the FZD4 gene), to transmit chemical signals from outside the cell to the cell's nucleus. Frizzled-4 and the LRP5 protein participate in the Wnt signaling pathway, a series of steps that affect the way cells and tissues develop. Wnt signaling is important for cell division (proliferation), attachment of cells to one another (adhesion), cell movement (migration), and many other cellular activities.
Normal function
The LRP5 gene provides instructions for making a protein that is embedded in the outer membrane of many types of cells. This protein is known as a co-receptor because it works with another receptor protein, frizzled-4 (produced from the FZD4 gene), to transmit chemical signals from outside the cell to the cell's nucleus. Frizzled-4 and the LRP5 protein participate in the Wnt signaling pathway, a series of steps that affect the way cells and tissues develop. Wnt signaling is important for cell division (proliferation), attachment of cells to one another (adhesion), cell movement (migration), and many other cellular activities.
The LRP5 protein plays an important role in the development and maintenance of several tissues. During early development, it helps guide the specialization of cells in the retina, which is the light-sensitive tissue that lines the back of the eye. The LRP5 protein is also involved in forming blood vessels in the retina and in the inner ear. Additionally, this protein helps regulate bone mineral density, which is a measure of the amount of calcium and other minerals in bones. The minerals give the bones strength, making them less likely to break.
Conditions referring to this gene or chromosome
Other names
BMND1
EVR1
EVR4
HBM
low density lipoprotein receptor-related protein 5
low density lipoprotein receptor-related protein 7
LR3
LRP5_HUMAN
LRP7
OPS
OPTA1
VBCH2
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Leitura adicional e referências
- LDL receptor related protein 5; MedlinePlus, National Library of Medicine.
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- Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2.
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- Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP, Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweiger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowicz A, Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet. 2002 Jan;70(1):11-9. doi: 10.1086/338450. Epub 2001 Dec 3.
- Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura KI. LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet. 2004;49(2):80-86. doi: 10.1007/s10038-003-0111-6. Epub 2004 Jan 15.
- Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum Mutat. 2005 Aug;26(2):104-12. doi: 10.1002/humu.20191.
- Qin M, Kondo H, Tahira T, Hayashi K. Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. Hum Genet. 2008 Jan;122(6):615-23. doi: 10.1007/s00439-007-0438-8. Epub 2007 Oct 23.
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- Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003 Mar;72(3):763-71. doi: 10.1086/368277. Epub 2003 Feb 10.
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