The LGI1 gene provides instructions for making a protein called leucine-rich glioma inactivated 1 (Lgi1) or epitempin. This protein is found primarily in nerve cells (neurons) in the brain, including a part of the brain called the temporal lobe. The temporal lobe is involved in hearing, speech, memory, and emotion.
Although researchers have proposed several functions for epitempin, its precise role in the brain remains uncertain. This protein is probably involved in normal brain development.
Some studies have suggested that epitempin plays a role in the normal function of potassium channels in neurons. These channels are embedded in the cell membrane, and they transport charged potassium atoms (potassium ions) out of neurons. Potassium channels are critical for normal electrical signaling in these cells. Other studies have found that epitempin is transported out of neurons. The function of this protein outside cells is unclear.
Epitempin may also help regulate communication between neurons. Researchers have determined that epitempin attaches (binds) to a receptor protein called ADAM22 on the surface of neurons. Together, these proteins help control the release of certain brain chemicals called neurotransmitters. These chemicals allow neighboring neurons to communicate with each other, which is how signals are relayed throughout the brain.
Other Names
EPITEMPIN; Epitempin 1; EPT; ETL1; IB1099; Leucine-Rich Glioma-Inactivated Protein 1; leucine-rich, glioma inactivated 1; LGI1_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 9211
- OMIM: 604619
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
