Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Vivi Li
 + 428 word(s) 428 2020-12-15 07:53:49

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Li, V. FREM2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5599 (accessed on 17 April 2024).
Li V. FREM2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5599. Accessed April 17, 2024.
Li, Vivi. "FREM2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5599 (accessed April 17, 2024).
Li, V. (2020, December 25). FREM2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5599
Li, Vivi. "FREM2 Gene." Encyclopedia. Web. 25 December, 2020.
FREM2 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/frem2

FRAS1 related extracellular matrix protein 2

genes

1. Normal Function

The FREM2 gene provides instructions for making a protein that is part of a group of proteins called the FRAS/FREM complex; in addition to being part of the complex, FREM2 regulates the complex's formation. The FRAS/FREM complex is found in basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The complex is particularly important during development before birth. One of its roles is to anchor the top layer of skin by connecting the basement membrane of the top layer to the layer of skin below. The FRAS/FREM complex is also involved in the proper development of certain other organs and tissues, including the kidneys, although the mechanism is unclear.

2. Health Conditions Related to Genetic Changes

2.1 Fraser Syndrome

At least two mutations in the FREM2 gene have been found to cause Fraser syndrome; these mutations are involved in a small percentage of cases of this condition. Fraser syndrome affects development before birth and is characterized by eyes that are completely covered by skin (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the kidneys and other organs and tissues.

FREM2 gene mutations involved in Fraser syndrome lead to production of an abnormal FREM2 protein that likely does not function properly. As a result, the FRAS/FREM complex cannot form. Lack of the FRAS/FREM complex in the basement membrane of skin leads to detachment of the top layer of skin, causing blisters to form during development. These blisters likely prevent the proper formation of certain structures before birth, leading to cryptophthalmos and cutaneous syndactyly. It is unknown how lack of the FRAS/FREM complex leads to kidney abnormalities and other problems in Fraser syndrome.

2.2 Coloboma

2.3 Congenital Anomalies of Kidney and Urinary Tract

2.4 Other Disorders

Mutations in the FREM2 gene have also been found in people with abnormalities of the kidneys and urinary tract but no other signs and symptoms of Fraser syndrome (described above). Such abnormalities are grouped together as congenital anomalies of the kidney and urinary tract (CAKUT). The FREM2 gene mutations involved in CAKUT typically change single protein building blocks (amino acids) in the FREM2 protein. Researchers speculate that the effects of these mutations are milder than those of mutations that cause Fraser syndrome; some FREM2 protein function may still remain. How these gene mutations affect the FRAS/FREM complex or lead to renal agenesis and other CAKUT is unknown.

3. Other Names for This Gene

  • DKFZp686J0811

  • ECM3 homolog

  • FRAS1-related extracellular matrix protein 2

References

  1. Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I,Woolf AS, Scambler PJ. Identification of a new gene mutated in Fraser syndromeand mouse myelencephalic blebs. Nat Genet. 2005 May;37(5):520-5.
  2. Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N,Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F. Mild recessivemutations in six Fraser syndrome-related genes cause isolated congenitalanomalies of the kidney and urinary tract. J Am Soc Nephrol. 2014Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103.
  3. Pavlakis E, Chiotaki R, Chalepakis G. The role of Fras1/Frem proteins in thestructure and function of basement membrane. Int J Biochem Cell Biol. 2011Apr;43(4):487-95. doi: 10.1016/j.biocel.2010.12.016.
  4. Petrou P, Makrygiannis AK, Chalepakis G. The Fras1/Frem family ofextracellular matrix proteins: structure, function, and association with Frasersyndrome and the mouse bleb phenotype. Connect Tissue Res. 2008;49(3):277-82.doi: 10.1080/03008200802148025.
  5. Short K, Wiradjaja F, Smyth I. Let's stick together: the role of the Fras1 andFrem proteins in epidermal adhesion. IUBMB Life. 2007 Jul;59(7):427-35. Review.
  6. van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K;Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ. Molecular study of33 families with Fraser syndrome new data and mutation review. Am J Med Genet A. 2008 Sep 1;146A(17):2252-7. doi: 10.1002/ajmg.a.32440.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Vivi Li
View Times: 453
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Feedback