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Public Library of Science, PLoS ONE, 7(6), p. e22138, 2011

DOI: 10.1371/journal.pone.0022138

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Functional Diversity of Human Basic Helix-Loop-Helix Transcription Factor TCF4 Isoforms Generated by Alternative 5′ Exon Usage and Splicing

Journal article published in 2011 by Mari Sepp ORCID, Kaja Kannike, Ave Eesmaa, Mari Urb, Tõnis Timmusk
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Transcription factor 4 (TCF4 alias ITF2, E2-2, ME2 or SEF2) is a ubiquitous class A basic helix-loop-helix protein that binds to E-box DNA sequences (CANNTG). While involved in the development and functioning of many different cell types, recent studies point to important roles for TCF4 in the nervous system. Specifically, human TCF4 gene is implicated in susceptibility to schizophrenia and TCF4 haploinsufficiency is the cause of the Pitt-Hopkins mental retardation syndrome. However, the structure, expression and coding potential of the human TCF4 gene have not been described in detail.