" /> LRP5 wt Allele - CISMeF





Preferred Label : LRP5 wt Allele;

NCIt synonyms : OPPG; LR3; HBM; LRP7; Osteoporosis Pseudoglioma Syndrome Gene; EVR4; BMND1; EVR1; OPTA1; Exudative Vitreoretinopathy 1 Gene; OPS; Low Density Lipoprotein Receptor-Related Protein 5 wt Allele; VBCH2; Low Density Lipoprotein Receptor-Related Protein 7 Gene; Exudative Vitreoretinopathy 4 Gene;

NCIt definition : Human LRP5 wild-type allele is located in the vicinity of 11q13.4 and is approximately 137 kb in length. This allele, which encodes low-density lipoprotein receptor-related protein 5, plays a role in the modulation of both receptor mediated endocytosis and Wnt signaling pathways. Mutation of the gene is associated with vitreoretinopathy exudative type 4 and several bone disorders.;

NCIt note : The LRP5 gene is associated with skeletal disorders including van Buchem disease type 2, osteopetrosis autosomal dominant type 1, endosteal hyperostosis Worth type, high bone mass, osteoporosis-pseudoglioma syndrome and increased susceptibility to osteoporosis.;

GenBank Accession Number : AF064548;

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12/05/2024


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