TCF/LEF family
TCF/LEF family is a group of transcription factors that play a crucial role in the Wnt signaling pathway. This family includes four members: TCF1, TCF3, TCF4, and LEF1. They are involved in various biological processes, including cell proliferation, cell differentiation, and cell fate determination.
Function[edit | edit source]
The TCF/LEF family members are primarily known for their role in the Wnt signaling pathway. They act as downstream effectors of the pathway, binding to beta-catenin and regulating the transcription of Wnt target genes. In the absence of Wnt signals, TCF/LEF proteins repress gene expression. However, when Wnt signals are present, they bind to beta-catenin and activate gene expression.
Structure[edit | edit source]
TCF/LEF family members share a common structure, which includes a high mobility group (HMG) domain that binds to DNA and a beta-catenin binding domain. The HMG domain is responsible for the specific binding of TCF/LEF proteins to DNA, while the beta-catenin binding domain is necessary for the interaction with beta-catenin.
Role in Disease[edit | edit source]
Abnormalities in the TCF/LEF family can lead to various diseases. For instance, mutations in TCF4 are associated with Pitt-Hopkins syndrome, a rare genetic disorder characterized by intellectual disability and distinctive facial features. Additionally, aberrant activation of the Wnt signaling pathway, often due to mutations in TCF/LEF proteins or beta-catenin, is implicated in many types of cancer.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD