L1CAM Recombinant Monoclonal Antibody

Uniprot Id

P32004

Target Species

Human

Target Name

L1CAM

Target Full Name

Neural cell adhesion molecule L1

Target Function

Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.

Target Involvement

Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS); Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA); Agenesis of the corpus callosum, X-linked, partial (ACCPX)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein. Cell projection, growth cone. Cell projection, axon. Cell projection, dendrite.

Target Protein Families

Immunoglobulin superfamily, L1/neurofascin/NgCAM family

Target Research Area

Cell Adhesion

Target Synonyms

Antigen identified by monoclonal R1 ; CAML1; CD171; CD171 antigen ; HSAS; HSAS1; Hyd; L1; L1 cell adhesion molecule; L1-NCAM; L1cam; L1CAM_HUMAN; MASA; MIC5; N CAML1 ; N-CAM-L1; NCAM-L1; NCAML1; Nerve-growth factor-inducible large external glycoprotein; Neural cell adhesion molecule L1; NILE; OTTHUMP00000025992 ; S10 ; SPG1

Target Background

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.