TEAD1 Chromosome 11
TEA domain transcription factor 1
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What This Gene Does
This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]
Gene Info
Gene Group
TEA domain transcription factors
Locus Type
gene with protein product
Location
11p15.3
Ensembl
ENSG00000187079
Associated Conditions (2)
Helicoid peripapillary chorioretinal degeneration
Inborn genetic diseases
Key Variants
RS11567847
Conflicting classifications of pathogenicity
Helicoid peripapillary chorioretinal degeneration, Helicoid peripapillary chorioretinal degeneration, Helicoid peripapillary chorioretinal degeneration
Health Risk
RS746873807
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11567847 | Health Risk | Conflicting classifications of pathogenicity | Helicoid peripapillary chorioretinal degeneration, Helicoid peripapillary chorioretinal degeneration, Helicoid peripapillary chorioretinal degeneration |
| RS746873807 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |