loading...| Preferred Name |
LRP5 wt Allele |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95411 |
| code |
C95411 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 |
| Contributing_Source |
CTRP |
| 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. |
| DesignNote |
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. |
| Display_Name |
LRP5 wt Allele |
| EntrezGene_ID |
4041 |
| FULL_SYN |
Low Density Lipoprotein Receptor-Related Protein 7 Gene Low Density Lipoprotein Receptor-Related Protein 5 wt Allele EVR4 EVR1 OPS BMND1 Exudative Vitreoretinopathy 4 Gene OPTA1 Exudative Vitreoretinopathy 1 Gene LRP5 wt Allele LRP7 HBM Osteoporosis Pseudoglioma Syndrome Gene VBCH2 OPPG LR3 |
| GenBank_Accession_Number |
AF064548 |
| label |
LRP5 wt Allele |
| OMIM_Number |
603506 |
| Preferred_Name |
LRP5 wt Allele |
| prefixIRI |
Thesaurus:C95411 |
| prefLabel |
LRP5 wt Allele |
| Semantic_Type |
Gene or Genome |
| UMLS_CUI |
C2987131 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||