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Normal Function
The MEGF8 gene provides instructions for making a protein whose function is unclear. Based on its structure, the Megf8 protein may be involved in cell processes such as attaching cells to one another (cell adhesion) and helping proteins interact with each other. Researchers also suspect that the Megf8 protein plays a role in the normal shaping (patterning) of many parts of the body during embryonic development.
Health Conditions Related to Genetic Changes
Carpenter syndrome
At least six mutations in the MEGF8 gene have been found to cause Carpenter syndrome, a condition characterized by irregular skull formation, finger and toe abnormalities, and many other features. These mutations reduce or eliminate the function of the Megf8 protein. Researchers suspect that the amount of protein function that is retained may contribute to the variability in signs and symptoms. It is unclear how MEGF8 gene mutations cause Carpenter syndrome. The mutations likely interfere with normal patterning of many parts of the body, which contributes to the features of this disorder.
More About This Health ConditionOther Names for This Gene
- C19orf49
- EGF-like domain-containing protein 4
- EGF-like-domain, multiple 4
- EGFL4
- epidermal growth factor-like protein 4
- FLJ22365
- HBV pre-s2 binding protein 1
- MEGF8_HUMAN
- multiple EGF-like-domains 8
- multiple epidermal growth factor-like domains protein 8
- SBP1
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Perlyn CA, Marsh JL. Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. Plast Reconstr Surg. 2008 Mar;121(3):971-981. doi: 10.1097/01.prs.0000299284.92862.6c. Citation on PubMed
- Twigg SR, Lloyd D, Jenkins D, Elcioglu NE, Cooper CD, Al-Sannaa N, Annagur A, Gillessen-Kaesbach G, Huning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11. Citation on PubMed or Free article on PubMed Central
- Zhang Z, Alpert D, Francis R, Chatterjee B, Yu Q, Tansey T, Sabol SL, Cui C, Bai Y, Koriabine M, Yoshinaga Y, Cheng JF, Chen F, Martin J, Schackwitz W, Gunn TM, Kramer KL, De Jong PJ, Pennacchio LA, Lo CW. Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3219-24. doi: 10.1073/pnas.0813400106. Epub 2009 Feb 13. Citation on PubMed or Free article on PubMed Central
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.