WASP actin nucleation promoting factor
Ultimo aggiornamento 8 maggio 2023
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L WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling triggers the cell to move and attach to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse).
Normal function
L WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling triggers the cell to move and attach to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse).
Conditions referring to this gene or chromosome
Altri nomi
IMD2
WASP
WASP_HUMAN
WASPA
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Ulteriori letture e riferimenti
- WASP actin nucleation promoting factor; MedlinePlus, National Library of Medicine.
- Ancliff PJ, Blundell MP, Cory GO, Calle Y, Worth A, Kempski H, Burns S, Jones GE, Sinclair J, Kinnon C, Hann IM, Gale RE, Linch DC, Thrasher AJ. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood. 2006 Oct 1;108(7):2182-9. doi: 10.1182/blood-2006-01-010249. Epub 2006 Jun 27.
- Bhattacharya K, Swaminathan K, Peche VS, Clemen CS, Knyphausen P, Lammers M, Noegel AA, Rastetter RH. Novel Coronin7 interactions with Cdc42 and N-WASP regulate actin organization and Golgi morphology. Sci Rep. 2016 May 4;6:25411. doi: 10.1038/srep25411.
- Blundell MP, Worth A, Bouma G, Thrasher AJ. The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function. Dis Markers. 2010;29(3-4):157-75. doi: 10.3233/DMA-2010-0735.
- Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S. Clinical course of patients with WASP gene mutations. Blood. 2004 Jan 15;103(2):456-64. doi: 10.1182/blood-2003-05-1480. Epub 2003 Sep 11.
- Looi CY, Sasahara Y, Watanabe Y, Satoh M, Hakozaki I, Uchiyama M, Wong WF, Du W, Uchiyama T, Kumaki S, Tsuchiya S, Kure S. The open conformation of WASP regulates its nuclear localization and gene transcription in myeloid cells. Int Immunol. 2014 Jun;26(6):341-52. doi: 10.1093/intimm/dxt072. Epub 2014 Jan 8.
- Ochs HD, Notarangelo LD. Structure and function of the Wiskott-Aldrich syndrome protein. Curr Opin Hematol. 2005 Jul;12(4):284-91. doi: 10.1097/01.moh.0000168520.98990.19.
- Ochs HD. Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes. Immunol Res. 2009;44(1-3):84-8. doi: 10.1007/s12026-008-8084-3.
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