DISEASES

Disease-gene associations mined from literature

Literature associating LEF1 and arrhythmogenic right ventricular cardiomyopathy

LEF1 [ENSP00000265165]

T cell-specific transcription factor 1-alpha; Participates in the Wnt signaling pathway. Activates transcription of target genes in the presence of CTNNB1 and EP300. May play a role in hair cell differentiation and follicle morphogenesis. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1. Regulates T-cell receptor alpha enhancer function. Binds DNA in a sequence-specific manner. PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). Isoform 3 lacks the CTNNB1 interaction domain and may be an antagonist for Wnt signaling. Isoform 5 transcriptionally activates the fibronectin promoter, binds to and represses transcription from the E-cadherin promoter in a CTNNB1- independent manner, and is involved in reducing cellular aggregation and increasing cell migration of pancreatic cancer cells. Isoform 1 transcriptionally activates MYC and CCND1 expression and enhances proliferation of pancreatic tumor cells; Belongs to the TCF/LEF family.

Synonyms:  LEF1,  LEF1p,  hLEF1,  A0A024RDI7,  B4DZY5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM