About: LRP5 wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • LRP5 wt Allele
rdfs:subClassOf
OMIM_Number
  • 603506
GenBank_Accession_Number
  • AF064548
Semantic_Type
  • Gene or Genome
Preferred_Name
  • LRP5 wt Allele
UMLS_CUI
  • C2987131
EntrezGene_ID
  • 4041
HGNC_ID
  • HGNC:6697
FULL_SYN
  • HBMSYNCI
  • GPX2SYNCI
  • Exudative Vitreoretinopathy 1 GeneSYNCI
  • LRP5 wt AllelePTNCI
  • LR3SYNCI
  • Low Density Lipoprotein Receptor-Related Protein 7 GeneSYNCI
  • OPSSYNCI
  • EVR1SYNCI
  • LRP7SYNCI
  • OPPGSYNCI
  • BMND1SYNCI
  • VBCH2SYNCI
  • OPTA1SYNCI
  • Osteoporosis Pseudoglioma Syndrome GeneSYNCI
  • Low Density Lipoprotein Receptor-Related Protein 5 wt AlleleSYNCI
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.NCI
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.
code
  • C95411
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