LDL-Rezeptor-related-Protein 5
Das LRP5-Gen kodiert einen LDL-Rezeptor, der das gebundene LDL mittels Endozytose internalisiert. Dieser Rezeptor spielt eine wichtige Rolle im Knochen- und Leberstoffwechselsowie im Auge. Mutationen sind für verschiedene Störungen des Knochen-Mineralhaushaltes verantwortlich. Im Auge wird die exudative Vitreoretinopathie Typ 4 ausgelöst und in der Leber können sich multiple Zysten bilden.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Van Wesenbeeck L et al. (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
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2. |
Cui Y et al. (2011) Lrp5 functions in bone to regulate bone mass.
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3. |
Narumi S et al. (2010) Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
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4. |
Yadav VK et al. (2008) Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum.
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5. |
Qin M et al. (2008) Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
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6. |
Guo YF et al. (2006) Polymorphisms of the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study.
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7. |
Clément-Lacroix P et al. (2005) Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice.
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8. |
Ai M et al. (2005) Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
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9. |
Qin M et al. (2005) Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
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10. |
Semënov M et al. (2005) SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor.
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11. |
Jiao X et al. (2004) Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.
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12. |
Ferrari SL et al. (2004) Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.
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13. |
Toomes C et al. (2004) Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
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14. |
Mizuguchi T et al. (2004) LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.
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15. |
Kondo H et al. (2003) Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.
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16. |
Fujino T et al. (2003) Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion.
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17. |
Magoori K et al. (2003) Severe hypercholesterolemia, impaired fat tolerance, and advanced atherosclerosis in mice lacking both low density lipoprotein receptor-related protein 5 and apolipoprotein E.
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18. |
None (1995) Familial exudative vitreoretinopathy.
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19. |
Shastry BS et al. (1997) Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity.
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20. |
Hey PJ et al. (1998) Cloning of a novel member of the low-density lipoprotein receptor family.
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21. |
Dong Y et al. (1998) Molecular cloning and characterization of LR3, a novel LDL receptor family protein with mitogenic activity.
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22. |
de Crecchio G et al. (1998) Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
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23. |
Chen D et al. (1999) Molecular cloning of mouse Lrp7(Lr3) cDNA and chromosomal mapping of orthologous genes in mouse and human.
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24. |
Mao J et al. (2001) Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway.
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25. |
Twells RC et al. (2001) The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13.
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26. |
Gong Y et al. (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
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27. |
Little RD et al. (2002) A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.
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28. |
Kato M et al. (2002) Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor.
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29. |
Boyden LM et al. (2002) High bone density due to a mutation in LDL-receptor-related protein 5.
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30. |
Twells RC et al. (2003) Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene.
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31. |
Orphanet article
Orphanet ID 123115
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32. |
NCBI article
NCBI 4041
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33. |
OMIM.ORG article
Omim 603506
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Update: 14. August 2020