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EDF1 functions as a transcriptional coactivator, enhancing the DNA-binding activity of various transcription factors such as ATF1, ATF2, CREB1, and NR5A1 . It achieves this by interconnecting the general transcription factor TATA element-binding protein (TBP) with gene-specific activators . This bridging role is essential for modulating the transcription of genes involved in endothelial differentiation .
Additionally, EDF1 regulates nitric oxide synthase activity, likely by sequestering calmodulin in the cytoplasm . This regulation is vital for maintaining endothelial cell function and vascular health.
EDF1 is implicated in several critical biological processes:
Mutations or dysregulation of the EDF1 gene can be associated with various diseases. For instance, EDF1 has been linked to Familial Cold Autoinflammatory Syndrome 2 and Retinitis Pigmentosa 41 . Understanding the function and regulation of EDF1 can provide insights into these conditions and potential therapeutic targets.
Recombinant EDF1 protein is used in research to study its role in cellular processes and disease mechanisms. By using human recombinant EDF1, scientists can investigate its interactions with other proteins and its impact on gene expression and cellular function.