| Gene Symbol |
L1CAM
|
| Gene Synonyms |
S10 HSAS HYCX MASA MIC5 SPG1 CAML1 CD171 HSAS1 N-CAML1 NCAM-L1 N-CAM-L1 |
| Gene Full Name |
L1 cell adhesion molecule |
| Gene Summary |
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] |
| Alternative Names |
Antigen identified by monoclonal antibody 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 |
| Molecular Weight(MW) |
140 kDa |
| Cellular Localization |
Cell membrane,Cell projection,Membrane. |