APC membrane recruitment protein 1
Última actualización 18 de mayo de 2021
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El AMER1 gene provides instructions for making a protein found in tissues throughout the body where it helps regulate the Wnt signaling pathway, which is a series of chemical signals that affect the way cells and tissues develop. Wnt signaling is important for cell division, attachment of cells to one another (adhesion), cell movement (migration), and many other cell activities. The AMER1 protein can promote cell growth by helping to turn on (activate) the Wnt pathway or prevent cell growth by helping to turn off (repress) the Wnt pathway. When repressing the pathway, the AMER1 protein is acting as a tumour suppressor, which means that it helps prevent cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way.
Normal function
El AMER1 gene provides instructions for making a protein found in tissues throughout the body where it helps regulate the Wnt signaling pathway, which is a series of chemical signals that affect the way cells and tissues develop. Wnt signaling is important for cell division, attachment of cells to one another (adhesion), cell movement (migration), and many other cell activities. The AMER1 protein can promote cell growth by helping to turn on (activate) the Wnt pathway or prevent cell growth by helping to turn off (repress) the Wnt pathway. When repressing the pathway, the AMER1 protein is acting as a tumour suppressor, which means that it helps prevent cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way.
Conditions referring to this gene or chromosome
Otros nombres
adenomatous polyposis coli membrane recruitment 1
FAM123B
family with sequence similarity 123B
FLJ39827
OSCS
protein FAM123B
RP11-403E24.2
Wilms tumour gene on the X chromosome protein
Wilms tumour on the X
WTX
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Lecturas adicionales y referencias
- APC membrane recruitment protein 1; MedlinePlus, National Library of Medicine.
- Gear R, Savarirayan R. Osteopathia Striata with Cranial Sclerosis. 2021 Apr 15 [updated 2023 Mar 30]. 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/NBK569515/
- Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Ades LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet. 2009 Jan;41(1):95-100. doi: 10.1038/ng.270. Epub 2008 Dec 14.
- Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W. Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res. 2010 Jan;25(1):82-90. doi: 10.1359/jbmr.090707.
- Sanz-Pamplona R, Lopez-Doriga A, Pare-Brunet L, Lazaro K, Bellido F, Alonso MH, Ausso S, Guino E, Beltran S, Castro-Giner F, Gut M, Sanjuan X, Closa A, Cordero D, Moron-Duran FD, Soriano A, Salazar R, Valle L, Moreno V. Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer. Clin Cancer Res. 2015 Oct 15;21(20):4709-18. doi: 10.1158/1078-0432.CCR-15-0159. Epub 2015 Jun 12.
- Zhang YY, Wang QM, Niu HL, Liu X, Zhang QL. The General Expression Analysis of WTX Gene in Normal and Cancer Tissues. Pathol Oncol Res. 2017 Apr;23(2):439-446. doi: 10.1007/s12253-016-0168-0. Epub 2016 Dec 28.
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Artículo también disponible en Inglés, Alemán, Español, Francés, Italiano, Portugués, Hindi, Hebreo, Árabe, y Sueco.
18 de mayo de 2021 | Última versión
1 Sept 2018 | Publicado originalmente
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