mitogen-activated protein kinase kinase kinase 1
Dernière mise à jour 27 oct. 2023
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The MAP3K1 gene provides instructions for making a protein that helps regulate signaling pathways that control various processes in the body, including the processes of determining sex characteristics before birth. The MAP3K1 protein attaches (binds) to other molecules called RHOA, MAP3K4, FRAT1, and AXIN1. The binding of MAP3K1 to these molecules, which are called cofactors, helps MAP3K1 control the activity of the signaling pathways.
Normal function
The MAP3K1 gene provides instructions for making a protein that helps regulate signaling pathways that control various processes in the body, including the processes of determining sex characteristics before birth. The MAP3K1 protein attaches (binds) to other molecules called RHOA, MAP3K4, FRAT1, and AXIN1. The binding of MAP3K1 to these molecules, which are called cofactors, helps MAP3K1 control the activity of the signaling pathways.
Conditions referring to this gene or chromosome
Other names
M3K1_HUMAN
MAP/ERK kinase kinase 1
MAPK/ERK kinase kinase 1
MAPKKK1
MEK kinase 1
MEKK
MEKK 1
MEKK1
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
SRXY6
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Lectures complémentaires et références
- mitogen-activated protein kinase kinase kinase 1; MedlinePlus, National Library of Medicine.
- Jara L, Gonzalez-Hormazabal P, Cerceno K, Di Capua GA, Reyes JM, Blanco R, Bravo T, Peralta O, Gomez F, Waugh E, Margarit S, Ibanez G, Romero C, Pakomio J, Roizen G. Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population. Breast Cancer Res Treat. 2013 Jan;137(2):559-69. doi: 10.1007/s10549-012-2359-z. Epub 2012 Dec 7.
- Loke J, Pearlman A, Radi O, Zuffardi O, Giussani U, Pallotta R, Camerino G, Ostrer H. Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/beta-catenin signaling. Hum Mol Genet. 2014 Feb 15;23(4):1073-83. doi: 10.1093/hmg/ddt502. Epub 2013 Oct 16.
- Nelson DS, van Halteren A, Quispel WT, van den Bos C, Bovee JV, Patel B, Badalian-Very G, van Hummelen P, Ducar M, Lin L, MacConaill LE, Egeler RM, Rollins BJ. MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. Genes Chromosomes Cancer. 2015 Jun;54(6):361-8. doi: 10.1002/gcc.22247. Epub 2015 Mar 31.
- Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. 2010 Dec 10;87(6):898-904. doi: 10.1016/j.ajhg.2010.11.003.
- Zheng Q, Ye J, Wu H, Yu Q, Cao J. Association between mitogen-activated protein kinase kinase kinase 1 polymorphisms and breast cancer susceptibility: a meta-analysis of 20 case-control studies. PLoS One. 2014 Mar 4;9(3):e90771. doi: 10.1371/journal.pone.0090771. eCollection 2014.
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