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SFRP4 gene

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

SFRP4 gene

The SFRP4 gene provides instructions for making a protein that regulates Wnt signaling, a process critical for normal bone development and remodeling.

Normal Function

The SFRP4 gene provides instructions for making a protein called secreted frizzled-related protein 4 (SFRP4). This protein blocks (inhibits) a process called Wnt signaling. Wnt signaling plays an important role in the development of several tissues and organs throughout the body. In particular, regulation of this signaling process by SFRP4 is critical for normal bone development and remodeling. Bone remodeling is a normal process in which old bone is broken down and new bone is created to replace it. The SFRP4 protein also plays a role in the development of fatty (adipose) tissue.

Health Conditions Related to Genetic Changes

Pyle disease

At least four SFRP4 gene mutations have been found in individuals with a bone disorder called Pyle disease. This condition is characterized by a bone abnormality in which the ends (metaphyses) of the long bones in the arms and legs are abnormally wide, resembling a boat oar or paddle. Other bones may also be abnormal in Pyle disease, including the collar bones (clavicles), ribs, and bones in the fingers and hands.

The SFRP4 gene mutations are thought to lead to production of an abnormally short SFRP4 protein with impaired function, or they result in no SFRP4 protein production at all. Studies suggest that loss of functional SFRP4 dysregulates Wnt signaling, which disrupts normal bone development and remodeling. Abnormal bone formation leads to the characteristics of Pyle disease.

Dupuytren contracture

MedlinePlus Genetics provides information about Dupuytren contracture.

Other Names for This Gene

  • frizzled protein, human endometrium
  • FRP-4
  • FRPHE
  • PYL
  • secreted frizzled-related protein 4 precursor
  • secreted frizzled-related protein 4; secreted frizzled-related protein 4
  • sFRP-4

Frequently Asked Questions

The SFRP4 protein normally inhibits Wnt signaling, a process critical for bone development and remodeling. Mutations in the SFRP4 gene lead to either an abnormally short, non-functional protein or no protein production at all. This loss of function causes dysregulated Wnt signaling, which disrupts the normal balance between bone breakdown and new bone formation. The resulting abnormal bone formation leads to the widened metaphyses and other skeletal changes characteristic of Pyle disease.
Pyle disease is characterized by abnormally wide ends (metaphyses) of the long bones in the arms and legs, giving them a paddle or boat oar appearance. This condition also affects the clavicles, ribs, and hand bones. Unlike many other skeletal dysplasias that may cause significant short stature or joint deformities, Pyle disease typically results in mild short stature and is often asymptomatic, with the primary diagnostic feature being the distinctive bone shape visible on X-rays.
Pyle disease is generally considered a benign condition with a normal life expectancy. Most individuals do not experience significant health complications beyond the skeletal changes. Joint function is usually preserved, and there is no known association with cognitive impairment or other systemic organ dysfunction. Management is typically supportive, focusing on monitoring for any potential orthopedic issues, though many individuals require no specific treatment.
While the SFRP4 gene is primarily associated with Pyle disease, it has also been linked to Dupuytren contracture, a condition involving thickening and shortening of the tissue in the palm. The exact mechanism is less clear than in Pyle disease, but it is believed that altered Wnt signaling due to SFRP4 variants may influence the development of fibrous tissue in the hand. However, Pyle disease remains the primary and most well-defined condition associated with SFRP4 mutations.
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.