Transcription factor 4 (TCF4) belongs to the class A subfamily of basic helix loop helix (bHLH) transcriptional regulators, which is also called E proteins. TCF4 gene is located on human chromosome 18q21.2. TCF4 is expressed in early human embryo.
免疫原
TCF4 (AAH31056.1, 1 a.a. ~ 365 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Transcription factor 4 (TCF4) is essential for regulating Wnt-signaling pathway. It is linked to schizophrenia.
物理的形状
無色透明のPBS溶液、pH 7.4
免責事項
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Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome
de Pontua, et al.
Human Mutation, 30(4) (2009)
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
Zweier, C, et al.
American Journal of Human Genetics, 80(5) (2007)
TCF4 (e2-2; ITF2): A schizophrenia-associated gene with pleiotropic effects on human disease
Navarrete, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 162(1) (2013)
Genotype--phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 11(11), 797-797 (2009)