Gene: LRP5

Alternate names for this Gene: BMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP-7|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2

Gene Summary: This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: LDL receptor related protein 5

Type of Gene: protein-coding

rs1085307078 in LRP5 gene and BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 PMID 15141052 2004 High-bone-mass disease and LRP5.

PMID 17052975 2006 LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST.

PMID 17295608 2007 Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling.

PMID 11741193 2002 A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.

PMID 12015390 2002 High bone density due to a mutation in LDL-receptor-related protein 5.

PMID 15824861 2005 Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

PMID 15143163 2004 The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd.

rs3736228 in LRP5 gene and Bone Density PMID 18455228 2008 Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

PMID 22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

PMID 24249740 2014 Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.

PMID 19801982 2009 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.

rs3736228 in LRP5 gene and Bone Mineral Density Test PMID 18455228 2008 Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

PMID 22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

PMID 24249740 2014 Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.

rs121908674 in LRP5 gene and EXUDATIVE VITREORETINOPATHY 4 (disorder) PMID 15981244 2005 Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

PMID 16252235 2005 Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

PMID 24715757 2014 Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

PMID 19324841 2009 Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

PMID 20340138 2010 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

PMID 15346351 2004 Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PMID 15024691 2004 Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

PMID 16929062 2006 Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

rs201030241 in LRP5 gene and Exudative vitreoretinopathy 1 PMID 27228167 2016 Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.

rs761919591 in LRP5 gene and Familial Exudative Vitreoretinopathy PMID 25711638 2015 Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

PMID 15024691 2004 Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

rs80358312 in LRP5 gene and Multiple congenital anomalies PMID 12579474 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

PMID 15824851 2005 Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

PMID 20652025 2010 LRP5 is required for vascular development in deeper layers of the retina.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 12054167 2002 Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.

PMID 15346351 2004 Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PMID 28111184 2017 LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.

PMID 28677207 2017 New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

PMID 22487062 2012 Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

rs80358312 in LRP5 gene and Muscle hypotonia PMID 15824851 2005 Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

PMID 20652025 2010 LRP5 is required for vascular development in deeper layers of the retina.

PMID 28111184 2017 LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.

PMID 28677207 2017 New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

PMID 22487062 2012 Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

PMID 15346351 2004 Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PMID 12054167 2002 Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 12579474 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

rs121908669 in LRP5 gene and OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 PMID 12579474 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

rs121908664 in LRP5 gene and Osteoporosis with pseudoglioma PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 16679074 2006 A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

PMID 17437160 2007 A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.

PMID 18602879 2008 Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.

PMID 16252235 2005 Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

rs150862227 in LRP5 gene and POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS PMID 28375157 2017 Isolated polycystic liver disease genes define effectors of polycystin-1 function.

PMID 24706814 2014 Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

rs121908670 in LRP5 gene and Van Buchem disease type 2 PMID 12579474 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

rs121908670 in LRP5 gene and Worth disease PMID 12579474 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

rs2291467 in LRP5 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.