LRPAP1 Antibody

1. The clinical and biometric features we describe in this report characterize LRPAP1-related high myopia and should raise suspicion for mutations in the gene. PMID: 26271838
2. The inhibition caused by reagents that prevented the activation of Rap was reversed by mobilizing intracellular calcium pharmacologically, whereas that caused by acrosome reaction inhibitors that impeded Rab3's binding to GTP was not. PMID: 25159528
3. The LRPAP1 I allelic variant may be considered a candidate gene for PD, predominantly in patients having the APOE epsilon4 allelic variant. PMID: 24504617
4. RAP inhibited light chain (LC)endocytosis by approximately 88% and ameliorated LC-induced cytokine responses and epithelial-to-mesenchymal transformation in human proximal tubular cells. PMID: 23894629
5. Mutations in LRPAP1 are associated with severe myopia in humans. PMID: 23830514
6. LRP1-C/T, A2M-Ile/Val and APOE-epsilon 2/epsilon 3/epsilon 4 polymorphisms are associated with AD. PMID: 20637261
7. Findings reveal that RAP is a novel Abeta-binding protein that promotes cellular internalization of Abeta. PMID: 19826010
8. Adenoviral-mediated expression of human receptor-asociated protein RAP in a murine model of von Willebrand disease results in a continuous rise in FVIII over 6 days. PMID: 11992244
9. RAP is organized into three domains located in the first third (1D), middle third (2D), and last third (3D) of the protein; all three domains adopt stable tertiary structure as isolated domains and are monomers. PMID: 14674767
10. NMR structure of domain 1 of receptor-associated protein PMID: 15213425
11. An insertion allele is found to be associated with gallstone disease. PMID: 16704534
12. RAP is expressed by thyrocytes in a TSH-dependent manner, both in cultured thyroid cells and in vivo PMID: 17123336
13. analysis of the relationship between ACE and LRPAP1 gene polymorphisms and age in an Italian population PMID: 17536759
14. Low-density lipoprotein receptor-related protein-associated protein (LRPAP1) gene IVS5 insertion/deletion polymorphism is not a risk factor for gallstone disease in a Polish population. PMID: 17913606
15. Low-density lipoprotein receptor-related protein associated protein (LRPAP1) insertion/deletion polymorphism is associated with gallstone disease and gallbladder carcinoma PMID: 17987404
16. LRP-1/LDLR-mediated uptake of A beta results in degeneration of perivascular cells. PMID: 18055545
17. alterations of the RAP gene are not a common cause of hypothyroidism PMID: 18075286
18. Our study suggests that LRPAP1-D and APOE E4 alleles significantly increase the susceptibility to degenerative dementias. PMID: 18721259

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HGNC: 6701

OMIM: 104225

KEGG: hsa:4043

STRING: 9606.ENSP00000421922

UniGene: Hs.40966