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URL of this page: https://medlineplus.gov/genetics/gene/fras1/

FRAS1 gene

Fraser extracellular matrix complex subunit 1

Normal Function

The FRAS1 gene provides instructions for making a protein that is found within the extracellular matrix, which is the intricate lattice that forms in the space between cells and provides structural support. The FRAS1 protein is part of a group of proteins called the FRAS/FREM complex.

Within the extracellular matrix, the FRAS/FREM complex is active in the basement membrane, which is the thin, sheet-like structure that separates and supports the cells in many tissues. One of the roles of the FRAS/FREM complex is to anchor the basement membrane of the top layer of skin to the layer of skin below. The FRAS/FREM complex is also involved in the proper organization and development of certain organs and tissues, including the kidneys.

Through a mechanism that is not well understood, the FRAS1 protein also appears to play a role in the self-destruction of cells that are no longer needed (apoptosis).

Health Conditions Related to Genetic Changes

Fraser syndrome

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the FRAS1 gene are the most common cause of Fraser syndrome. Fraser syndrome affects development before birth and is typically characterized by eyes that are 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.

Pathogenic variants in the FRAS1 gene that are associated with Fraser syndrome can cause cells to make a version of the protein that does not function properly, which disrupts the formation of the FRAS/FREM complex. Without the FRAS/FREM complex in the basement membrane of the skin, the movement (migration) and communication of cells in the different skin layers is impaired. This leads to the cryptophthalmos and cutaneous syndactyly that are seen in affected individuals.

The pathogenic variants in the FRAS1 gene that cause Fraser syndrome likely also interfere with apoptosis, which may contribute to the additional abnormalities seen in people with Fraser syndrome.

More About This Health Condition

Anophthalmia/Microphthalmia

MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia

More About This Health Condition

Coloboma

MedlinePlus Genetics provides information about Coloboma

More About This Health Condition

Congenital anomalies of kidney and urinary tract

MedlinePlus Genetics provides information about Congenital anomalies of kidney and urinary tract

More About This Health Condition

Other Names for This Gene

  • FLJ14927
  • FLJ22031
  • KIAA1500

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Al-Hamed MH, Sayer JA, Alsahan N, Tulbah M, Kurdi W, Ambusaidi Q, Ali W, Imtiaz F. Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families. J Nephrol. 2021 Jun;34(3):893-900. doi: 10.1007/s40620-020-00795-0. Epub 2020 Jul 8. Citation on PubMed
  • Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I. Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. Gene. 2013 May 15;520(2):194-7. doi: 10.1016/j.gene.2013.02.031. Epub 2013 Mar 6. Citation on PubMed
  • Ikeda S, Akamatsu C, Ijuin A, Nagashima A, Sasaki M, Mochizuki A, Nagase H, Enomoto Y, Kuroda Y, Kurosawa K, Ishikawa H. Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2. Hum Genome Var. 2020 Oct 2;7:32. doi: 10.1038/s41439-020-00119-5. eCollection 2020. Citation on PubMed
  • 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 recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2014 Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103. Epub 2014 Apr 3. Citation on PubMed or Free article on PubMed Central
  • Pavlakis E, Chiotaki R, Chalepakis G. The role of Fras1/Frem proteins in the structure and function of basement membrane. Int J Biochem Cell Biol. 2011 Apr;43(4):487-95. doi: 10.1016/j.biocel.2010.12.016. Epub 2010 Dec 21. Citation on PubMed
  • Petrou P, Makrygiannis AK, Chalepakis G. The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. Connect Tissue Res. 2008;49(3):277-82. doi: 10.1080/03008200802148025. Citation on PubMed
  • Short K, Wiradjaja F, Smyth I. Let's stick together: the role of the Fras1 and Frem proteins in epidermal adhesion. IUBMB Life. 2007 Jul;59(7):427-35. doi: 10.1080/15216540701510581. Citation on PubMed
  • Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet A. 2006 Sep 15;140(18):1909-14. doi: 10.1002/ajmg.a.31399. Citation on PubMed
  • 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 of 33 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. Citation on PubMed

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