CD171/N-CAML1 Antibody – Rabbit

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: Cell adhesion; Membrane protein, integral

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: presynaptic membrane; cell surface; focal adhesion; integral to membrane; plasma 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; homotypic cell-cell adhesion; cell-cell adhesion mediated by integrin; positive regulation of cell-cell adhesion; homophilic cell adhesion; cell adhesion; blood coagulation; leukocyte migration

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