LEF1 Chromosome 4

Lymphoid enhancer binding factor 1
3 variants 3 Health Risk

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What This Gene Does
This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"TCF/LEF transcription factor family|Wnt enhanceosome complex"
Locus Type
gene with protein product
Location
4q25
Ensembl
ENSG00000138795
Associated Conditions (3)
Ectrodactyly
Ectodermal dysplasia 17 with or without limb malformations
Ectrodactyly and ectodermal dysplasia without cleft lip/palate
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS2110266987 Health Risk Pathogenic Ectrodactyly, Ectodermal dysplasia 17 with or without limb malformations, Ectrodactyly
RS2110433384 Health Risk Pathogenic Ectrodactyly and ectodermal dysplasia without cleft lip/palate, Ectrodactyly and ectodermal dysplasia without cleft lip/palate
RS2126274969 Health Risk Pathogenic Ectrodactyly, Ectodermal dysplasia 17 with or without limb malformations, Ectrodactyly
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