EYA transcriptional coactivator and phosphatase 1
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Der EYA1 gene provides instructions for making a protein that plays a role in regulating the activity of other genes. Based on this role, the EYA1 protein is called a transcription factor or transcription coactivator.
Normal function
Der EYA1 gene provides instructions for making a protein that plays a role in regulating the activity of other genes. Based on this role, the EYA1 protein is called a transcription factor or transcription coactivator.
The EYA1 protein interacts with several other proteins, including a group known as SIX proteins, to turn on (activate) and turn off (inactivate) genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues. These include the second branchial arch, which gives rise to tissues in the front and side of the neck, and the eyes, ears, and kidneys. After birth, these interactions are important for normal organ function.
Conditions referring to this gene or chromosome
Other names
BOP
BOR
EYA1_HUMAN
eyes absent 1
eyes absent homolog 1 (Drosophila)
eyes absent, Drosophila, homolog of, 1
Related patient information and medicines
Patient information leaflet
Überprüfen Sie Ihre Medikamente auf Wechselwirkungen
Use this Medikamenten- und Wechselwirkungsprüfer zur see whether your medicines, supplements, vitamins, foods, or certain health conditions may interact with each other. It can help you understand potential risks, avoid unwanted side effects, and decide when it’s important to speak to a pharmacist, GP, or other healthcare professional. The tool is.
Patient information leaflet
Leberfunktionstests
Changes in liver function tests give a clue as to whether your liver is under strain, inflamed, infected or diseased, and how badly. The p... In chronic liver disease, a rise in GGT suggests bile duct damage and scarring. What does an abnormal alkaline phosphatase level mean. Alkaline phosphatase (ALP) comes mainly from the cells lining bile ducts.
Patient information leaflet
CT-Scan
Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the instructions given by your doctor or local hospital. What is a CT scan. A CT scan is a specialised X-ray test. It can give quite clear pictures of the inside of your body. In particular,.
Patient information leaflet
Glykogenspeicherkrankheiten
They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Most are diagnosed in childhood. Symptoms include weakness, tiredness and low blood sugar levels. Newer treatment possibilities.
Patient information leaflet
Hodenkrebs
Hodenkrebs ist a cancer that arises from a testicle (testis). Around half of all cases occur in men aged under 35 but testicular cancer rarely occurs before puberty. It is the most common cancer in men aged 15-44 years. There are about 2,000 new cases in the UK each year. The common early symptom of testicular cancer is a painless lump that.
Patient information leaflet
Morbus Paget des Knochens
Paget's disease of bone affects the structure of parts of one or more bones. In most cases it causes no symptoms and does not need treatment. Bone cancer may be suspected if you develop worsening pain or swelling over an affected area o... Blood tests. A chemical in the Blut genannt alkaline phosphatase can be measured in a blood sample. Levels.
Weiterführende Lektüre und Referenzen
- EYA transcriptional coactivator and phosphatase 1; MedlinePlus, National Library of Medicine.
- Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997 Feb;15(2):157-64. doi: 10.1038/ng0297-157.
- Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. 2000 Feb 12;9(3):363-6. doi: 10.1093/hmg/9.3.363.
- Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 2004 Jun;23(6):582-9. doi: 10.1002/humu.20048.
- Krug P, Moriniere V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D, Salomon R, Antignac C, Heidet L. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 2011 Feb;32(2):183-90. doi: 10.1002/humu.21402.
- Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat. 2008 Apr;29(4):537-44. doi: 10.1002/humu.20691.
- Rayapureddi JP, Hegde RS. Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. FEBS Lett. 2006 Jul 10;580(16):3853-9. doi: 10.1016/j.febslet.2006.06.009. Epub 2006 Jun 15.
- Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0. Epub 2013 Mar 19.
- Smith RJH, Azaiez H. Branchiootorenal Spectrum Disorder. 1999 Mar 19 [updated 2025 Jun 26]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1380/
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Mar 2016 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.