The LEMD3 gene provides instructions for making a protein that is located in a cell structure called the nuclear envelope. The nuclear envelope surrounds the nucleus, acting as a barrier between the nucleus and the rest of the cell.
The LEMD3 protein helps control two chemical signaling pathways called the transforming growth factor beta (TGF-β) pathway and the bone morphogenic protein (BMP) pathway. The TGF-β and BMP pathways regulate various cellular processes, including cell growth and division (proliferation), the process by which cells mature to carry out special functions (differentiation), and the self-destruction of cells (apoptosis). These pathways are also involved in the growth of new bone.
Signaling through the BMP and TGF-β pathways turns on (activates) proteins called Smads, which attach (bind) to specific areas of DNA to activate certain genes. The LEMD3 protein interacts with Smads to reduce signaling through these pathways. In this way, the LEMD3 protein helps keep signaling at normal levels within the cell.
Other Names
inner nuclear membrane protein Man1; integral inner nuclear membrane protein; LEM domain-containing protein 3; MAN1; MAN1_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 23592
- OMIM: 607844
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
