spalt like transcription factor 1
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ال SALL1 gene is part of a group of related genes that provide instructions for making proteins involved in the formation of tissues and organs before birth. These proteins are transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes.
Normal function
ال SALL1 gene is part of a group of related genes that provide instructions for making proteins involved in the formation of tissues and organs before birth. These proteins are transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes.
The SALL1 protein helps turn off (repress) gene activity by interacting with other proteins that alter how tightly regions of DNA are packaged. This process, known as chromatin remodeling, is one way gene expression is regulated during development; typically, when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. By controlling gene activity, the SALL1 protein plays an important role in development of the hands (particularly the thumbs), ears, anus, kidneys, and other parts of the body before birth.
Conditions referring to this gene or chromosome
Other names
HSAL1
sal (Drosophila)-like 1
sal-like 1
sal-like 1 (Drosophila)
Sal-like protein 1
SALL1_HUMAN
spalt-like transcription factor 1
TBS
ZNF794
Related patient information and medicines
Patient information leaflet
ابيضاض الدم الليمفاوي الحاد
ت bone marrow sample For this test, a small amount of bone marrow هو removed by inserting a needle into the pelvic bone, or sometimes the breastbone (ster. Local anaesthetic is ... Stem cell transplant (SCT) is sometimes performed. In some cases, radiotherapy to the brain is also used. Stem cell transplantation (SCT) SCT - sometimes called bone.
Patient information leaflet
اختبارات تخثر الدم
اختبارات تخثر الدم are used to diagnose and assess bleeding problems and to monitor people who take warfarin أو other anticoagulant medicines. You may be advised to have blood clotting tests: If you have a suspected bleeding disorder. These chemicals then react with other chemicals and proteins in th... There are 13 known clotting factors which.
Patient information leaflet
علاج مرض السكري من النوع 2
Although diabetes cannot be cured, it can be treated successfully. If a high blood sugar level is brought down to a normal level, your symptoms will ease and your risk of long-term complications will be much lower. Managi... You can read more about controlling other risk factors in our separate leaflet called Type 2 diabetes. The rest of this.
Patient information leaflet
الهيموفيليا
الهيموفيليا is a rare النزيف disorder that affects your ability to make a clot. The blood contains substances called clotting factors that work with platelets to form a clot. When you injure yourself the clot stops you bleeding. Haemophilia is a condition where there is a deficiency of clotting factors, so people with this condition usually have.
Patient information leaflet
الأسبرين والأدوية المضادة للصفائح الدموية الأخرى
Most people who have a cardiovascular disease (for example, angina, peripheral arterial disease, or a previous heart attack, transient ischaemic attack (TIA) or stroke) take a low-dose aspirin (75 mg) each day or clopidogrel (75 mg) each day. This reduces the risk of heart attack by about a third. It reduces the risk of having a stroke by about a.
Patient information leaflet
هل يمكنني تناول أبيكسابان وريبيلسوس معًا؟
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 أبيكسابان هو an anticoagulant (blood thinner) that works by blocking a clotting factor called Factor Xa. Rybelsus is a GLP-1 receptor agonist used for type 2 diabetes that mimics a natural.
قراءة إضافية ومراجع
- spalt like transcription factor 1; MedlinePlus, National Library of Medicine.
- Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat. 2006 Feb;27(2):211-2. doi: 10.1002/humu.9396.
- Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 2007 Feb;28(2):204-5. doi: 10.1002/humu.9476.
- Botzenhart EM, Green A, Ilyina H, Konig R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rosler B, Kohlhase J. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9362.
- Bozal-Basterra L, Martin-Ruiz I, Pirone L, Liang Y, Sigurethsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodriguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R. Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. Am J Hum Genet. 2018 Feb 1;102(2):249-265. doi: 10.1016/j.ajhg.2017.12.017.
- de Celis JF, Barrio R. Regulation and function of Spalt proteins during animal development. Int J Dev Biol. 2009;53(8-10):1385-98. doi: 10.1387/ijdb.072408jd.
- Graziano C, Olivucci G. SALL1-Related Townes-Brocks Syndrome. 2007 Jan 24 [updated 2025 Aug 14]. 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/NBK1445/
- Kiefer SM, Ohlemiller KK, Yang J, McDill BW, Kohlhase J, Rauchman M. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet. 2003 Sep 1;12(17):2221-7. doi: 10.1093/hmg/ddg233. Epub 2003 Jul 15.
- Kohlhase J, Liebers M, Backe J, Baumann-Muller A, Bembea M, Destree A, Gattas M, Grussner S, Muller T, Mortier G, Skrypnyk C, Yano S, Wirbelauer J, Michaelis RC. High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. J Med Genet. 2003 Nov;40(11):e127. doi: 10.1136/jmg.40.11.e127. No abstract available.
- Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet. 1998 Jan;18(1):81-3. doi: 10.1038/ng0198-81.
- Miller EM, Hopkin R, Bao L, Ware SM. Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. Am J Med Genet A. 2012 Mar;158A(3):533-40. doi: 10.1002/ajmg.a.34426. Epub 2012 Feb 3.
- Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK. SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. Hum Mol Genet. 2001 Dec 15;10(26):3017-24. doi: 10.1093/hmg/10.26.3017.
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26 Sept 2025 | أحدث إصدار
1 Jun 2020 | نُشر في الأصل
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