Gene: LRP4

Alternate names for this Gene: CLSS|CMS17|LRP-4|LRP10|MEGF7|SOST2

Gene Summary: This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: LDL receptor related protein 4

Type of Gene: protein-coding

rs780336679 in LRP4 gene and 1-5 finger syndactyly PMID 28559208 2017 Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

rs78245588 in LRP4 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs78245588 in LRP4 gene and AIDS, PROGRESSION TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs2306032 in LRP4 gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs78245588 in LRP4 gene and HIV-1, RESISTANCE TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs78245588 in LRP4 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs387906883 in LRP4 gene and SCLEROSTEOSIS 2 PMID 21471202 2011 Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.

PMID 24234652 2014 LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

rs10838634 in LRP4 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs267607220 in LRP4 gene and Syndactyly Cenani Lenz type PMID 20381006 2010 LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

PMID 28559208 2017 Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

rs2306027 in LRP4 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs191945075 in LRP4 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

rs78245588 in LRP4 gene and Viral Load result PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.