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LRP5 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LRP5 gene

The LRP5 gene provides instructions for a co-receptor protein that plays a critical role in the Wnt signaling pathway, influencing bone density and eye development.

Normal Function

The LRP5 gene provides instructions for making a protein that is embedded in the outer membrane of many types of cells. This protein is known as a co-receptor because it works with another receptor protein, frizzled-4 (produced from the FZD4 gene), to transmit chemical signals from outside the cell to the cell's nucleus. Frizzled-4 and the LRP5 protein participate in the Wnt signaling pathway, a series of steps that affect the way cells and tissues develop. Wnt signaling is important for cell division (proliferation), attachment of cells to one another (adhesion), cell movement (migration), and many other cellular activities.

The LRP5 protein plays an important role in the development and maintenance of several tissues. During early development, it helps guide the specialization of cells in the retina, which is the light-sensitive tissue that lines the back of the eye. The LRP5 protein is also involved in forming blood vessels in the retina and in the inner ear. Additionally, this protein helps regulate bone mineral density, which is a measure of the amount of calcium and other minerals in bones. The minerals give the bones strength, making them less likely to break.

Health Conditions Related to Genetic Changes

Familial exudative vitreoretinopathy

Multiple variants in the LRP5 gene have been identified in people with the eye disease familial exudative vitreoretinopathy. This disorder affects the retina and can cause vision loss that worsens over time. A reduction in the amount of LRP5 protein disrupts chemical signaling in the developing eye, which interferes with the formation of blood vessels at the edges of the retina. The resulting abnormal blood supply to this tissue can lead to retinal damage and vision loss.

Juvenile primary osteoporosis

LRP5 gene variants have been found to cause juvenile primary osteoporosis. Individuals with this condition have low bone mineral density and thinning of the bones (osteoporosis) beginning in childhood. The LRP5 gene variants that cause this condition produce an LRP5 protein that is unable to transmit chemical signals along the Wnt signaling pathway, disrupting the regulation of bone mineral density.

Osteoporosis-pseudoglioma syndrome

Multiple LRP5 gene variants that cause osteoporosis-pseudoglioma syndrome have been identified. Beginning in childhood, people with this condition have extremely low bone mineral density and osteoporosis, which leads to multiple bone fractures. Affected individuals also have eye abnormalities that cause vision impairment from birth or early infancy. Loss of LRP5 protein function disrupts the chemical signaling pathways that are needed for the formation of bone and for normal retinal development.

Other disorders

Studies suggest that changes in the LRP5 gene may influence the risk of developing osteoporosis in adulthood. Other LRP5 gene variants cause disorders associated with an increase in bone mineral density, such as autosomal dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. These variants overactivate the LRP5 protein, which increases Wnt signaling within cells and enhances bone formation.

Other Names for This Gene

  • BMND1
  • EVR1
  • EVR4
  • HBM
  • low density lipoprotein receptor-related protein 5
  • low density lipoprotein receptor-related protein 7
  • LR3
  • LRP5_HUMAN
  • LRP7
  • OPS
  • OPTA1
  • VBCH2

Genomic Location

The LRP5 gene is found on chromosome 11.

Frequently Asked Questions

Infants require urgent evaluation by a pediatric vitreoretinal specialist, including wide-field fluorescein angiography under anesthesia to assess the peripheral retina. Early detection of avascular peripheral zones, abnormal vessel branching, or neovascularization allows for timely intervention with prophylactic laser photocoagulation or vitrectomy, preventing progressive retinal traction and vision loss.
Yes. Skeletal dysplasia genetic panels evaluate LRP5 alongside classical collagen genes like COL1A1 and COL1A2. Identifying a heterozygous loss-of-function variant in LRP5 establishes a diagnosis of LRP5-related early-onset osteoporosis without the extra-skeletal features common to osteogenesis imperfecta (such as blue sclerae or dentinogenesis imperfecta), alerting clinicians to also monitor peripheral retinal vascular health.
LRP5 plays a dual role in developing retinal blood vessels and activating bone formation via the Wnt signaling pathway. When both copies of the gene carry loss-of-function mutations, retinal capillaries fail to vascularize properly (causing severe congenital or infantile vision loss) and osteoblast activity is severely blunted, resulting in extreme childhood bone fragility and recurrent fractures. genetically distinct from typical osteogenesis imperfecta.
Certain missense mutations in LRP5 are gain-of-function variants that alter the first beta-propeller domain of the receptor protein. This structural change prevents natural Wnt inhibitors, such as sclerostin and DKK1, from binding to LRP5. As a result, bone-forming Wnt signaling remains continuously active, producing exceptionally high bone mineral density, thickened cortical bone, and conditions like autosomal dominant osteosclerosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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