Fraser extracellular matrix complex subunit 1
Última actualización 26 Sept 2025
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El FRAS1 gene provides instructions for making a protein that is part of a group of proteins called the FRAS/FREM complex. This complex is found in basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The FRAS/FREM 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.
Normal function
El FRAS1 gene provides instructions for making a protein that is part of a group of proteins called the FRAS/FREM complex. This complex is found in basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The FRAS/FREM 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.
Conditions referring to this gene or chromosome
Otros nombres
extracellular matrix protein FRAS1
FLJ14927
FLJ22031
Fraser syndrome 1
KIAA1500
Related patient information and medicines
%20vaccination/og.png)
Patient information leaflet
Vacunación contra el virus respiratorio sincitial (VRS)
The RSV vaccine helps protect babies and older people from the common infectious disease of the airways and lungs. Here we have information about the respiratory syncytial virus (RSV) vaccine and who should get it. What is the RSV vaccine. RSV is a common virus which causes lung infections (respiratory tract disease). An RSV infection can happen.
Patient information leaflet
síndrome de Cushing
Cushing's syndrome is caused by too high a level of glucocorticoid in the body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by the body). Symptoms usually develop gradually and so the diagnosis (other than that caused by steroid medication) may.
Patient information leaflet
¿Puedo tomar Tetraciclina y Calcio juntos?
This is because the calcium binds to the medicine in your stomach, preventing... Why this happens This is a pharmacokinetic interaction involving absorption. Calcium is a multivalent cation that undergoes 'chelation' with tetracycline. They bind together to form an insoluble complex in the digestive tract that is too large to pass through the gut.
Patient information leaflet
¿Puedo tomar Royal sun y Turkey tail juntos?
Ambos Royal Sun (Agaricus blazei) and Turkey Tail (Trametes versicolor) son medicinal mushrooms that can stimulate the immune system. Taking them together may lead to an overactive immune response. Additionally, both may have mild blood-thinning effects and could lower blood sugar levels. Why this happens These mushrooms contain beta-glucans which.
Patient information leaflet
¿Puedo tomar Shiitake y Cola de Pavo juntos?
Ou... Simply search for your medicines to see potential interactions and what to do about them. Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute for professional medical advice. Always consult your GP, pharmacist, or another qualified healthcare professional before making decisions.
Patient information leaflet
¿Puedo tomar cola de pavo y champiñón blanco juntos?
Ou... Simply search for your medicines to see potential interactions and what to do about them. Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute for professional medical advice. Always consult your GP, pharmacist, or another qualified healthcare professional before making decisions.
Lecturas adicionales y referencias
- Fraser extracellular matrix complex subunit 1; MedlinePlus, National Library of Medicine.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.