LA810

L1 cell adhesion molecule
Structure of L1CAM
Identifiers
Symbol	?
NCBI gene	3897
HGNC	6596
OMIM	308840
RefSeq	NM_000425
UniProt	P32004
Search for Structures Swiss-model Domains InterPro

L1 cell adhesion molecule (L1CAM) is a protein that in humans is encoded by the L1CAM gene. L1CAM is a member of the immunoglobulin superfamily and plays a crucial role in the development of the nervous system. It is involved in neuronal migration, axon guidance, and synaptic plasticity.

Structure

L1CAM is a transmembrane glycoprotein composed of several immunoglobulin-like domains, fibronectin type III domains, a transmembrane domain, and a cytoplasmic tail. The extracellular region of L1CAM mediates cell-cell adhesion by interacting with other L1CAM molecules or different cell surface receptors.

Function

L1CAM is primarily expressed in the nervous system, where it facilitates neurite outgrowth, axon fasciculation, and neuronal migration. It is also involved in synaptic plasticity and learning and memory. L1CAM interacts with various intracellular signaling pathways, influencing cell survival, proliferation, and differentiation.

Clinical Significance

Mutations in the L1CAM gene are associated with several neurological disorders, including L1 syndrome, which encompasses a spectrum of conditions such as X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type 1. These conditions are characterized by intellectual disability, hydrocephalus, and motor dysfunction.

L1CAM is also implicated in cancer, particularly in tumor progression and metastasis. Overexpression of L1CAM has been observed in various carcinomas, including ovarian, colorectal, and pancreatic cancer. It is considered a potential biomarker and therapeutic target in oncology.

Research

Ongoing research is focused on understanding the molecular mechanisms of L1CAM in neurodevelopmental disorders and cancer. Studies are exploring the potential of L1CAM-targeted therapies, including monoclonal antibodies and small molecule inhibitors, to treat L1CAM-associated pathologies.

Also see

• Neural cell adhesion molecule
• Axon guidance
• Neurodevelopmental disorder
• Immunoglobulin superfamily
• Cell adhesion molecule