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FLASH GENE
Symbol LRP4 contributors: mct/npt/pgu - updated : 12-01-2016
HGNC name low density lipoprotein receptor-related protein 4
HGNC id 6696
ASSOCIATED DISORDERS
corresponding disease(s) SDTY7 , SOST2 , CMS17
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
associated with bone overgrowth and impaired sclerostin facilitator function
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • polysyndactyly caused by two recessive mutations in the mouse Lrp4 gene
  • syndactyly caused by mutations in the bovine Lrp4 gene
  • Lrp4 mutant mice displayed a delay in placode initiation and changes in distribution and number of mammary precursor cells leading to abnormal morphology, number and position of mammary placodes
  • Lrp4(-/-) mice show a delay in ureteric bud formation that results in unilateral or bilateral kidney agenesis
  • Lrp4 null mutations in mice result in limb development defects and in perinatal death due to a lack of neuromuscular junction formation