L1 (protein)

L1 (protein)

The L1 protein is a type of cell adhesion molecule (CAM) that plays a crucial role in the nervous system. It is also known as L1CAM (L1 cell adhesion molecule) and is encoded by the L1CAM gene in humans.

Structure

The L1 protein is a transmembrane protein, meaning it spans the entire cell membrane. It consists of six immunoglobulin-like domains and five fibronectin type III domains in its extracellular region, a single transmembrane domain, and a short cytoplasmic tail.

Structure of L1CAM

Function

L1 plays a significant role in neuronal migration and differentiation, axon guidance, and synapse formation. It is involved in the process of myelination, where it aids in the formation of the myelin sheath around nerve fibers. L1 also plays a role in cell signaling, particularly in the nervous system.

Clinical significance

Mutations in the L1CAM gene can lead to a variety of neurological disorders, including hydrocephalus, mental retardation, spastic paraplegia, and corpus callosum agenesis. These conditions are often grouped together under the term L1 syndrome.

Research

Research into the L1 protein has potential implications for the treatment of neurological disorders and cancer. Some studies suggest that L1CAM could be a potential target for cancer therapy, as it has been found to be overexpressed in several types of tumors.

See also

• Cell adhesion molecule
• Nervous system
• Neurological disorder
• Cancer