NIPBL cohesin loading factor
Última actualización 21 Jun 2022
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
The NIPBL gene provides instructions for making a protein called delangin, which plays an important role in human development. Delangin helps control the activity of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The sister chromatids are attached to one another during the early stages of cell division by a group of proteins known as the cohesin complex. Delangin plays a critical role in the regulation of this complex. Specifically, it controls the interaction between the cohesion complex and the DNA that makes up the sister chromatids.
Normal function
The NIPBL gene provides instructions for making a protein called delangin, which plays an important role in human development. Delangin helps control the activity of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The sister chromatids are attached to one another during the early stages of cell division by a group of proteins known as the cohesin complex. Delangin plays a critical role in the regulation of this complex. Specifically, it controls the interaction between the cohesion complex and the DNA that makes up the sister chromatids.
Researchers believe that delangin, as a regulator of the cohesin complex, also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and controlling the activity of certain genes that are essential for normal development.
Conditions referring to this gene or chromosome
Otros nombres
CDLS
IDN3
IDN3-B
NIPBL_HUMAN
Nipped-B homolog (Drosophila)
Nipped-B-like
Scc2
Related patient information and medicines
Patient information leaflet
¿Puedo tomar Apixabán y Bisoprolol juntos?
There is no direct interaction between apixaban and bisoprolol. They work in different ways and do not interfere with how the body processes each other. Why this happens Apixaban es un anticoagulant (blood thinner) that works by blocking a clotting factor llamado Factor Xa. Bisoprolol is a beta-blocker that slows the heart rate and lowers blood.
Patient information leaflet
Leucemia linfoblástica aguda
ALL is not an inherited condition and does not run in families. What are the main symptoms and problems when acute lymphoblastic leukaemia develops. As large numbers of abnormal lymphoblasts are made, much of the bone marrow fills with these abnormal cells. Because of this, it is difficult for normal cells in the bone marrow to survive and make.
Patient information leaflet
VIH y SIDA
In fact... Preventing HIV by having safer sex and avoiding the sharing of needles is key, but if you develop HIV infection, early diagnosis and treatment are life-saving. What is HIV. VIH stands for virus de la inmunodeficiencia humana This is a virus in the group of viruses called retroviruses. HIV destroys cells in the body, called CD4 T cells. CD4 T.
Patient information leaflet
Deficiencia, exceso y suplementación de zinc
We get zinc from our diets but not getting enough can causa a wide variety of symptoms, some of which are very vague. As well as many chemical reactions in our bodies, zinc is needed for: Our immune systems to work well to fight off infection. Healing of wounds. Growing. Building the proteins and molecules which are the basis of all our cells..
Patient information leaflet
¿Puedo tomar Apixaban y Rybelsus juntos?
These two medicines work in different ways and do not typically interfere with how the other is absorbed, broken down, or removed from the body. Why this happens Apixaban is an anticoagulant (blood thinner) that works by blocking a clotting factor llamado Factor Xa. Rybelsus es un GLP-1 receptor agonist used for medicamento para la diabetes tipo 2 that mimics a natural.
Patient information leaflet
Síndrome coronario agudo
The term 'acute coronary syndrome' (ACS) covers a range of disorders, including a heart attack (myocardial infarction) and unstable angina, that are caused by a sudden reduction of blood flow to part of the heart muscle. This is usually caused by a blood clot. What is acute coronary syndrome. The term 'acute coronary syndrome' (ACS) covers a range.
Lecturas adicionales y referencias
- NIPBL cohesin loading factor; MedlinePlus, National Library of Medicine.
- Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter NP, Munnich A, Colleaux L, Cormier-Daire V. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet. 2004 Dec;41(12):e128. doi: 10.1136/jmg.2004.026666. No abstract available.
- Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med. 2014 Mar;2(2):115-23. doi: 10.1002/mgg3.48. Epub 2013 Nov 14.
- Deardorff MA, Raible SE, Krantz ID. Cornelia de Lange Syndrome. 2005 Sep 16 [updated 2026 Jun 16]. 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/NBK1104/
- Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18.
- Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16.
- Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat. 2013 Dec;34(12):1589-96. doi: 10.1002/humu.22430. Epub 2013 Sep 16.
- Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med. 2012 Mar;14(3):313-22. doi: 10.1038/gim.2011.13. Epub 2012 Jan 5.
- Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet. 2004 Jun;36(6):636-41. doi: 10.1038/ng1363. Epub 2004 May 16.
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.