structural maintenance of chromosomes 1A
Zuletzt aktualisiert 2. Mai 2023
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The SMC1A gene provides instructions for making a protein that is part of the structural maintenance of chromosomes (SMC) family. Within the nucleus, SMC proteins help regulate the structure and organisation of chromosomes.
Normal function
The SMC1A gene provides instructions for making a protein that is part of the structural maintenance of chromosomes (SMC) family. Within the nucleus, SMC proteins help regulate the structure and organisation of chromosomes.
The protein produced from the SMC1A gene helps control 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, which are attached to one another during the early stages of cell division. The SMC1A protein is part of a protein group called the cohesin complex that holds the sister chromatids together.
Researchers believe that the SMC1A protein, as a structural component of the cohesin complex, also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and regulating the activity of certain genes that are essential for normal development.
Conditions referring to this gene or chromosome
Other names
DXS423E
KIAA0178
segregation of mitotic chromosomes 1
SMC1
SMC1-alpha
SMC1A_HUMAN
SMC1L1
SMCB
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Genetische Tests
Genetische Tests is a type von medical test that identifies changes in chromosomes, genes or proteins. Genetic tests examine a person's DNA in a variety of ways to assess a person's genetic health. We all have 46 chromosomes in our cells. Chromosomes are made from DNA (deoxyribonucleic acid). Genes are short sections of DNA and each chromosome.
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Acute lymphoblastic leukaemia (ALL) is a condition where the bone marrow makes large numbers of abnormal immature lymphocytes. What is acute lymphoblastic leukaemia. Chromosomes are the parts in the cell which contain DNA - the genetic makeup of the cell. For example, in one abnormality genannt Philadelphia chromosome, ein part of chromosome 9 is.
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Schrillkopf-Syndrom is a chromosome problem caused by a missing piece von chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
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Fehlgeburt und Blutungen in der frühen Schwangerschaft
This may be referred to by doctors as a missed miscarriage. What causes miscarriage. It is thought that most early miscarriages are caused by a one-off problem mit the chromosomes of the developing baby (fetus) in the womb. Chromosomes are the structures that contain the genetic information inherited from the parents. If a baby (fetus) doesn't.
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Turner syndrome is a genetic condition that only affects girls. The most characteristic features of the syndrome are being short, having certain physical features (detailed below), and ovaries that do not work properly. Can Turner syndrome be ... Turner-Syndrom ist a genetic condition. This means that there is an abnormality with the genes of the.
Weiterführende Lektüre und Referenzen
- structural maintenance of chromosomes 1A; MedlinePlus, National Library of Medicine.
- Baranano KW, Kimball A, Fong SL, Egense AS, Hudon C, Kline AD. Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome. J Child Neurol. 2022 Apr;37(5):390-396. doi: 10.1177/08830738221081244. Epub 2022 Mar 3.
- Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat. 2007 Feb;28(2):205-6. doi: 10.1002/humu.9478.
- Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17.
- 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/
- Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, Melis D, Aravena T, Doray B, Ferrarini A, Garavelli L, Selicorni A, Larizza L. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Am J Med Genet A. 2013 Nov;161A(11):2909-19. doi: 10.1002/ajmg.a.36252. Epub 2013 Oct 2.
- Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov;30(11):1535-42. doi: 10.1002/humu.21095.
- 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.
- Mannini L, Liu J, Krantz ID, Musio A. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Hum Mutat. 2010 Jan;31(1):5-10. doi: 10.1002/humu.21129.
- Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9.
- Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet. 2009 Feb 1;18(3):418-27. doi: 10.1093/hmg/ddn369. Epub 2008 Nov 7.
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2. Mai 2023 | Neueste Version
1. Apr 2022 | Ursprünglich veröffentlicht
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