Neural Cell Adhesion Molecule L1 (L1CAM) ELISA Kit for Human

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 X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]

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

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

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

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