LEMD3 : LEM domain containing 3
Description
The LEMD3 (LEM domain containing 3) is a protein-coding gene located on chromosome 12.
The LEMD3 gene provides instructions for making a protein that resides in the nuclear envelope, which surrounds the nucleus, separating it from the rest of the cell. The LEMD3 protein regulates the TGF-β and BMP signaling pathways, which control cellular processes like cell growth, differentiation, and apoptosis, as well as bone growth. These pathways activate proteins called Smads, which bind to DNA to activate genes. LEMD3 interacts with Smads to reduce signaling through these pathways, ensuring normal signal levels within the cell.
LEMD3 acts as a specific inhibitor of TGF-beta, activin, and BMP signaling pathways by interacting with R-SMAD proteins. It counteracts the cell growth arrest triggered by TGF-beta.
LEMD3 is also known as MAN1.
Associated Diseases
- Isolated osteopoikilosis
- Buschke-Ollendorff syndrome
- Melorheostosis with osteopoikilosis
- 12q14 microdeletion syndrome
