TFEC
Description
The TFEC (transcription factor EC) is a protein-coding gene located on chromosome 7.
Transcription factor EC is a protein that in humans is encoded by the TFEC gene.
TFEC acts as a transcriptional regulator, functioning as both a repressor and an activator. It represses transcription by binding to the element F, which contains an E-box sequence, on minimal promoters. Conversely, it activates transcription by binding to the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter. TFEC collaborates with MITF in activating target genes. Additionally, it represses transcription by binding to the mu E3 enhancer sequence on minimal promoters. TFEC binds to the mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer. DNA binding occurs in either homo- or heterodimeric forms.
TFEC is also known as TCFEC, TFE-C, TFEC-L, TFECL, bHLHe34, hTFEC-L.
Associated Diseases
- glaucoma
- Griscelli syndrome type 3
- uncombable hair syndrome
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- oculocutaneous albinism type 3
