forkhead box C1
Dernière mise à jour 11 avr. 2023
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La FOXC1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this action, the FOXC1 protein is called a transcription factor.
Normal function
La FOXC1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this action, the FOXC1 protein is called a transcription factor.
The FOXC1 protein plays a critical role in early development, particularly in the formation of structures in the front part of the eye (the anterior segment). These structures include the colored part of the eye (the iris), the lens of the eye, and the clear front covering of the eye (the cornea). Studies suggest that the FOXC1 protein may also have functions in the adult eye, such as helping cells respond to oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells.
The FOXC1 protein is also involved in the normal development of other parts of the body, including the heart, kidneys, and brain.
Conditions referring to this gene or chromosome
Other names
FKHL7
forkhead box protein C1
forkhead, drosophila, homolog-like 7
forkhead-related activator 3
forkhead-related protein FKHL7
forkhead-related transcription factor 3
forkhead/winged helix-like transcription factor 7
FOXC1_HUMAN
FREAC-3
FREAC3
myeloid factor-delta
Related patient information and medicines
Patient information leaflet
Tuberculose
The death rate from TB is falling but it still causes about two million deaths per year worldwide. The main risk factors for TB in the developing world are: Poor nutrition. Poor housing. Poor general health. If you have TB of the lung or voice box, anyone who comes into close and prolonged contact with you needs testing. The usual tests available.
Patient information leaflet
Hématome sous-dural
There are also three thin spaces between the layers of meninges: The epidural space est the space between the vertebral column and the dura mater. What is a subdural ha... A subdural haematoma is a collection of clotting blood that forms in the subdural space. It usually occurs because of an injury to the head. If you or your children take part in.
Patient information leaflet
Hernie hiatale
Acid reflux symptoms Symptoms de reflux acide (gastro-oesophageal reflux disease or GORD) include: Heartburn: this is the main symptom. This is a burning feeling which rises from the upper tummy (abdomen) or lower chest up towards the neck. Pain in the upper abdomen and chest. Feeling sick. An acid taste in the mouth. Bloating. Belching. Difficulty.
Patient information leaflet
Blépharospasme
Why is my eyelid twitching. Primary blepharospasm, or benign essential blepharospasm (BEB), is a term used for eyelid twitching, fluttering or blinking without a known underlying cause. Blépharospasme is thought to be due to abnormal functioning of le basal ganglia, a pair of 'junction boxes' in the brain that help coordinate our movements. What.
Patient information leaflet
Épiglottite
Épiglottite is the term used to describe inflammation and swelling of the epiglottis which lies just behind the root of the tongue. It is usually caused by infection with a bacteria. The usual symptoms are a severe sore throat, pain or difficulty swallowing and a high temperature (fever). Breathing difficulties can occur. Prompt treatment is.
Patient information leaflet
Angio-œdème
Antihistamines and steroid tablets ease symptoms in many cases. If your breathing is affected then go straight to your local accident and emergency department or call for an ambulance urgently. What is angio-oedema. Angio-œdème is a condition that can cause swelling of: The deeper layers du peau - these are called the dermis and subcutaneous.
Lectures complémentaires et références
- forkhead box C1; MedlinePlus, National Library of Medicine.
- Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9.
- Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ, Walter MA. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. Hum Mol Genet. 2006 Mar 15;15(6):905-19. doi: 10.1093/hmg/ddl008. Epub 2006 Jan 31.
- D'haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F, Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, De Paepe A, Kestelyn P, Leroy BP, De Baere E. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309.
- Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL. A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol. 2003 Mar;135(3):368-75. doi: 10.1016/s0002-9394(02)02061-5.
- Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T. Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1843-9.
- Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet. 2001 Feb;68(2):364-72. doi: 10.1086/318183. Epub 2001 Jan 18.
- Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet. 2012 Dec;20(12):1224-33. doi: 10.1038/ejhg.2012.80. Epub 2012 May 9.
- Strungaru MH, Dinu I, Walter MA. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):228-37. doi: 10.1167/iovs.06-0472.
- Tumer Z, Bach-Holm D. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10.
- Weisschuh N, Wolf C, Wissinger B, Gramer E. A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. Clin Genet. 2008 Nov;74(5):476-80. doi: 10.1111/j.1399-0004.2008.01025.x. Epub 2008 May 21.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.