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LEF1

Chr 4q25

lymphoid enhancer binding factor 1

Aliases:
TCF1ALPHA, TCF10, TCF7L3
MANE:
ENST00000265165.6
OMIM: 153245 ↗NCBI: 51176 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Ectodermal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Multiple monogenic benign skin tumours

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • ectodermal dysplasia 17 with or without limb malformations

    0.67

  • B-cell chronic lymphocytic leukemia

    0.47

  • hair color

    0.44

  • hypothyroidism

    0.43

  • Split hand-split foot malformation

    0.43

  • Ectrodactyly

    0.43

  • split hand-foot malformation

    0.43

  • Graves disease

    0.42

  • benign colon neoplasm

    0.39

  • hypertensive disorder

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lymphoid enhancer-binding factor 1

Transcription factor that binds DNA in a sequence-specific manner (PubMed:2010090). Participates in the Wnt signaling pathway (By similarity). Activates transcription of target genes in the presence of CTNNB1 and EP300 (By similarity). PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1 (PubMed:11266540). Regulates T-cell receptor alpha enhancer function (PubMed:19653274). Required for IL17A expressing gamma-delta T-cell maturation and development, via binding to regulator loci of BLK to modulate expression (By similarity). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, expression is repressed during the bell stage by MSX1-mediated inhibition of CTNNB1 signaling (By similarity). May play a role in hair cell differentiation and follicle morphogenesis (By similarity)

Diseases associated with LEF1

Curated MONDO disease pages that list LEF1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.