CREB binding lysine acetyltransferase
अंतिम अद्यतन 2 जून 2025
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
यह CREBBP gene provides instructions for making CREB binding protein, which regulates the activity of many genes in tissues throughout the body. This protein plays an essential role in controlling cell growth and division and prompting cells to mature and assume specialized functions (differentiate). CREB binding protein appears to be critical for normal development before and after birth. Studies show that this protein is involved in development of the brain and may also be involved in the formation of long-term memories.
Normal function
यह CREBBP gene provides instructions for making CREB binding protein, which regulates the activity of many genes in tissues throughout the body. This protein plays an essential role in controlling cell growth and division and prompting cells to mature and assume specialized functions (differentiate). CREB binding protein appears to be critical for normal development before and after birth. Studies show that this protein is involved in development of the brain and may also be involved in the formation of long-term memories.
CREB binding protein carries out its functions by turning on (activating) transcription, which is the first step in the production of proteins from the instructions stored in DNA. The CREB binding protein ensures the DNA is ready for transcription by attaching a small molecule called an acetyl group to proteins called histones (a process called acetylation). Histones are structural proteins that bind DNA and give chromosomes their shape. Acetylation of the histone changes the shape of the chromosome, making genes available for transcription. On the basis of this function, CREB binding protein is called a histone acetyltransferase.
In addition, CREB binding protein connects other proteins that start the transcription process (known as transcription factors) with the group of proteins that carries out transcription. On the basis of this function, CREB binding protein is called a transcriptional coactivator.
Conditions referring to this gene or chromosome
Other names
CBP
CBP_HUMAN
CREB binding protein (Rubinstein-Taybi syndrome)
Related patient information and medicines
Patient information leaflet
प्राथमिक पित्तवाहिनी कोलांगाइटिस
Primary biliary cholangitis (PBC) is a condition that slowly damages the bile ducts in your liver, leading to liver damage and, sometimes, liver scarring (cirrhosis). Primary biliary cholangitis (PBC) is an auto-immune condition in which your immune system gradually destroys the tiny tubes (bile ducts) which take bile from the liver to the gut.
Patient information leaflet
पेफिगस वल्गेरिस
पेफिगस वल्गेरिस है a very serious skin disease that causes blisters. It is rare. Pemphigus vulgaris is more serious than most other blistering skin conditions. These different conditions vary grea... Pemphigus vulgaris is the most common form of pemphigus and one of the most serious blistering skin conditions. This leaflet is केवल about.
Patient information leaflet
Pompholyx
Pompholyx है a type of eczema where there हैं itchy blisters on the hands and feet, followed by inflamed and dry skin. The condition is usually long-term, with symptoms that come and go at various times. The first step in managing pompholyx is to identify and avoid things that make it worse. Treatment includes creams and ointments to reduce.
Patient information leaflet
प्रतिरक्षा प्रणाली
This leaflet gives a brief overview of the प्रतिरक्षा प्रणाली and how it works. A person with a weak immune system might have difficulty fighting off infections. In autoimmune diseases the body is unable to tell what is its own and what is foreign, so it attacks itself. Autoimmune diseases can attack any part of the body - eg, type 1 diabetes.
Patient information leaflet
क्या मैं लायन मेन और माचा को एक साथ ले सकता हूँ?
It is best to drink matcha between meals rather than with them if you... Using other medicines Taking multiple medicines. Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to do.
Patient information leaflet
क्या मैं एम्लोडिपाइन और फाइबर सप्लीमेंट्स को एक साथ ले सकता हूँ?
Taking fibre supplements at the same time as amlodipine may slightly lower the amount of medicine your body absorbs. Our दवाओं की परस्पर क्रिया जाँचकर्ता helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Disclaimer This information is for general educational purposes only and should not.
अधिक पठन और संदर्भ
- CREB binding lysine acetyltransferase; MedlinePlus, National Library of Medicine.
- Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J. Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Am J Med Genet A. 2019 Jun;179(6):1058-1062. doi: 10.1002/ajmg.a.61131. Epub 2019 Mar 20.
- Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanova E, Volleth M, Haaf T, Kalscheuer VM. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006 Sep;120(2):179-86. doi: 10.1007/s00439-006-0215-0. Epub 2006 Jun 17.
- Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005 Sep;117(5):485-93. doi: 10.1007/s00439-005-1331-y. Epub 2005 Jul 14.
- Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006 Oct 19;7:77. doi: 10.1186/1471-2350-7-77.
- Coupry I, Monnet L, Attia AA, Taine L, Lacombe D, Arveiler B. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat. 2004 Mar;23(3):278-84. doi: 10.1002/humu.20001.
- Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 2002 Jun;39(6):415-21. doi: 10.1136/jmg.39.6.415. No abstract available.
- Goodman RH, Smolik S. CBP/p300 in cell growth, transformation, and development. Genes Dev. 2000 Jul 1;14(13):1553-77. No abstract available.
- Hallam TM, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. Cell Mol Life Sci. 2006 Aug;63(15):1725-35. doi: 10.1007/s00018-005-5555-8.
- Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RC, Peters DJ. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet. 2003 Feb 15;12(4):441-50. doi: 10.1093/hmg/ddg039.
- McManus KJ, Hendzel MJ. CBP, a transcriptional coactivator and acetyltransferase. Biochem Cell Biol. 2001;79(3):253-66.
- Menke LA; DDD study; Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20.
- Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr;76(4):572-80. doi: 10.1086/429130. Epub 2005 Feb 10.
- Rozman M, Camos M, Colomer D, Villamor N, Esteve J, Costa D, Carrio A, Aymerich M, Aguilar JL, Domingo A, Sole F, Gomis F, Florensa L, Montserrat E, Campo E. Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation. Genes Chromosomes Cancer. 2004 Jun;40(2):140-5. doi: 10.1002/gcc.20022.
- Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25.
- Stevens CA. Rubinstein-Taybi Syndrome. 2002 Aug 30 [updated 2023 Nov 9]. 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/NBK1526/
- Thienpont B, Bena F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14.
- Ward R, Johnson M, Shridhar V, van Deursen J, Couch FJ. CBP truncating mutations in ovarian cancer. J Med Genet. 2005 Jun;42(6):514-8. doi: 10.1136/jmg.2004.025080. No abstract available.
- Zhang J, Vlasevska S, Wells VA, Nataraj S, Holmes AB, Duval R, Meyer SN, Mo T, Basso K, Brindle PK, Hussein S, Dalla-Favera R, Pasqualucci L. The CREBBP Acetyltransferase Is a Haploinsufficient Tumor Suppressor in B-cell Lymphoma. Cancer Discov. 2017 Mar;7(3):322-337. doi: 10.1158/2159-8290.CD-16-1417. Epub 2017 Jan 9.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.