Neural Cell Adhesion Molecule L1 (L1CAM) Antibody – Rat Monoclonal

The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant. [provided by RefSeq]

NCAM-L1: cell adhesion molecule with an important role in the development of the nervous system. Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons. Two splice-variant isoforms have been described.

Protein type: Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: presynaptic membrane; cell surface; focal adhesion; plasma membrane; integral to membrane; terminal button; external side of plasma membrane

Molecular Function: integrin binding; identical protein binding; protein self-association; sialic acid binding

Biological Process: nervous system development; axon guidance; positive regulation of calcium-mediated signaling; chemotaxis; heterophilic cell adhesion; leukocyte adhesion; cell surface receptor linked signal transduction; cell-cell adhesion mediated by integrin; homotypic cell-cell adhesion; positive regulation of cell-cell adhesion; blood coagulation; homophilic cell adhesion; cell adhesion; leukocyte migration

Disease: Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius; Corpus Callosum, Partial Agenesis Of, X-linked; Masa Syndrome