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Genetics Home Reference: your guide to understanding genetic conditions
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MEGF8

Reviewed May 2013

What is the official name of the MEGF8 gene?

The official name of this gene is “multiple EGF-like-domains 8.”

MEGF8 is the gene's official symbol. The MEGF8 gene is also known by other names, listed below.

What is the normal function of the MEGF8 gene?

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.

How are changes in the MEGF8 gene related to health conditions?

Carpenter syndrome - caused by mutations in the MEGF8 gene

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.

Where is the MEGF8 gene located?

Cytogenetic Location: 19q12

Molecular Location on chromosome 19: base pairs 42,325,608 to 42,378,768

The MEGF8 gene is located on the long (q) arm of chromosome 19 at position 12.

The MEGF8 gene is located on the long (q) arm of chromosome 19 at position 12.

More precisely, the MEGF8 gene is located from base pair 42,325,608 to base pair 42,378,768 on chromosome 19.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about MEGF8?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MEGF8 gene or gene products?

  • C19orf49
  • EGFL4
  • EGF-like domain-containing protein 4
  • EGF-like-domain, multiple 4
  • epidermal growth factor-like protein 4
  • FLJ22365
  • HBV pre-s2 binding protein 1
  • MEGF8_HUMAN
  • multiple epidermal growth factor-like domains protein 8
  • SBP1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MEGF8?

cell ; cell adhesion ; domain ; embryonic ; gene ; growth factor ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1954)
  • OMIM: MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 8 (http://omim.org/entry/604267)
  • Perlyn CA, Marsh JL. Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. Plast Reconstr Surg. 2008 Mar;121(3):971-81. doi: 10.1097/01.prs.0000299284.92862.6c. (http://www.ncbi.nlm.nih.gov/pubmed/18317146?dopt=Abstract)
  • Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning 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. (http://www.ncbi.nlm.nih.gov/pubmed/23063620?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19218456?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2013
Published: July 21, 2014