MDFI
Description
The MDFI (MyoD family inhibitor) is a protein-coding gene located on chromosome 6.
MDFI is a protein that acts as a transcription factor, controlling the activity of other genes. It specifically targets and inhibits the activity of proteins belonging to the MyoD family, which are crucial for muscle development. By binding to these MyoD family proteins, MDFI prevents them from entering the nucleus where they activate gene expression. This inhibition is achieved by masking signals that guide these proteins to the nucleus and by interfering with their ability to bind to DNA. Studies using mice lacking the MDFI gene have shown defects in the formation of vertebrae and ribs, suggesting a role in cartilage development. MDFI interacts with several other proteins, including C9orf86, GNAI2, MyoD, Myogenin, and SIX1, potentially influencing various cellular processes.
MDFI inhibits the activity of MyoD family proteins, preventing them from activating gene expression and promoting muscle cell development. It achieves this by binding to MyoD family members, blocking their entry into the nucleus and their ability to bind DNA. MDFI also plays a crucial role in the development of trophoblasts (cells that form the placenta) and chondrocytes (cartilage cells). It regulates the activity of a protein called TCF7L1/TCF3, preventing it from binding to DNA and influencing gene expression. MDFI interacts with the axin complex, leading to increased levels of beta-catenin, a protein involved in cell signaling. This affects the activity of the WNT and JNK signaling pathways, which control various cellular processes.
MDFI is also known as I-MF, I-mfa.
Associated Diseases
- autosomal recessive spondylocostal dysostosis
- autosomal dominant spondylocostal dysostosis
- spondylometaphyseal dysplasia, A4 type
- diaphanospondylodysostosis
- autosomal dominant brachyolmia
- Acropectorovertebral dysplasia
- thoracolaryngopelvic dysplasia
- spondylometaphyseal dysplasia, Kozlowski type
- metatropic dysplasia
- pseudoachondroplasia
- spondyloepimetaphyseal dysplasia, matrilin-3 type
- brachyolmia type 1, Hobaek type
- progressive pseudorheumatoid arthropathy of childhood
- spondyloepimetaphyseal dysplasia with joint laxity
