notch receptor 1
Dernière mise à jour 8 mai 2023
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La NOTCH1 gene provides instructions for making a protein called Notch1, a member of the Notch family of receptors. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand to the Notch1 receptor sends signals that are important for normal development of many tissues throughout the body, both before birth and after. Notch1 signaling helps determine the specialization of cells into certain cell types that perform particular functions in the body (cell fate determination). It also plays a role in cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis).
Normal function
La NOTCH1 gene provides instructions for making a protein called Notch1, a member of the Notch family of receptors. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand to the Notch1 receptor sends signals that are important for normal development of many tissues throughout the body, both before birth and after. Notch1 signaling helps determine the specialization of cells into certain cell types that perform particular functions in the body (cell fate determination). It also plays a role in cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis).
The protein produced from the NOTCH1 gene has such diverse functions that the gene is considered both an oncogene and a tumour suppressor. Oncogenes typically promote cell proliferation or survival, and when mutated, they have the potential to cause normal cells to become cancerous. In contrast, tumour suppressors keep cells from growing and dividing too fast or in an uncontrolled way, preventing the development of cancer; mutations that impair tumour suppressors can lead to cancer development.
Conditions referring to this gene or chromosome
Other names
AOS5
AOVD1
hN1
neurogenic locus notch homolog protein 1
neurogenic locus notch homolog protein 1 preproprotein
Notch homolog 1, translocation-associated
TAN1
translocation-associated notch protein TAN-1
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Lectures complémentaires et références
- notch receptor 1; MedlinePlus, National Library of Medicine.
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- Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14.
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