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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.
More About This Health ConditionDupuytren contracture
MedlinePlus Genetics provides information about Dupuytren contracture
More About This Health ConditionOther 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
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Galada C, Shah H, Shukla A, Girisha KM. A novel sequence variant in SFRP4 causing Pyle disease. J Hum Genet. 2017 Apr;62(5):575-576. doi: 10.1038/jhg.2016.166. Epub 2017 Jan 19. Citation on PubMed
- Haraguchi R, Kitazawa R, Mori K, Tachibana R, Kiyonari H, Imai Y, Abe T, Kitazawa S. sFRP4-dependent Wnt signal modulation is critical for bone remodeling during postnatal development and age-related bone loss. Sci Rep. 2016 Apr 27;6:25198. doi: 10.1038/srep25198. Citation on PubMed or Free article on PubMed Central
- Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafe L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R. Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med. 2016 Jun 30;374(26):2553-2562. doi: 10.1056/NEJMoa1509342. Citation on PubMed or Free article on PubMed Central
- Visweswaran M, Schiefer L, Arfuso F, Dilley RJ, Newsholme P, Dharmarajan A. Wnt antagonist secreted frizzled-related protein 4 upregulates adipogenic differentiation in human adipose tissue-derived mesenchymal stem cells. PLoS One. 2015 Feb 25;10(2):e0118005. doi: 10.1371/journal.pone.0118005. eCollection 2015. Citation on PubMed or Free article on PubMed Central
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