L1CAM : L1 cell adhesion molecule

Description

The L1CAM (L1 cell adhesion molecule) is a protein-coding gene located on chromosome X.

The L1CAM gene provides instructions for producing the L1 cell adhesion molecule protein (shortened to L1 protein), which is found on the surface of nerve cells (neurons) throughout the nervous system. The L1 protein spans the cell membrane, with one end of the protein inside the cell and the other end projecting from the outer surface of the cell. This positioning allows the L1 protein to attach (bind) to other proteins, including other L1 proteins, on neighboring neurons to help these cells stick to one another (cell-cell adhesion). The L1 protein plays a role in the movement (migration) and organization of neurons and the outgrowth of axons, which are specialized extensions of neurons that transmit nerve impulses. The protein also plays a role in the formation of the protective sheath (myelin) that surrounds certain neurons and the formation of junctions between nerve cells (synapses), where cell-to-cell communication occurs. These neuronal functions contribute to brain development, thinking ability, memory, and movement.

L1CAM is also known as CAML1, CD171, HSAS, HSAS1, HYCX, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1.

Associated Diseases

• MASA syndrome
• X-linked complicated corpus callosum dysgenesis
• Corpus callosum, partial agenesis of, X-linked
• X-linked complicated spastic paraplegia type 1
• Hydrocephalus with stenosis of the aqueduct of Sylvius
• Hydrocephalus due to congenital stenosis of aqueduct of sylvius
• L1 syndrome