L1, also known as L1CAM, is a transmembrane protein member of the L1 protein family, encoded by the L1CAM gene. This protein, of 200-220 kDa, is a neuronal cell adhesion molecule with a strong implication in cell migration, adhesion, neurite outgrowth, myelination and neuronal differentiation.[5] It also plays a key role in treatment-resistant cancers due to its function. It was first identified in 1984 by M. Schachner who found the protein in post-mitotic mice neurons.
Quick Facts L1CAM, Identifiers ...
L1CAM |
---|
|
Identifiers |
---|
Aliases | L1CAM, CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1, L1 cell adhesion molecule |
---|
External IDs | OMIM: 308840 MGI: 96721 HomoloGene: 20128 GeneCards: L1CAM |
---|
|
|
RNA expression pattern |
---|
Bgee | Human | Mouse (ortholog) |
---|
Top expressed in | - spinal ganglia
- trigeminal ganglion
- cerebellar vermis
- sural nerve
- olfactory bulb
- Brodmann area 10
- superior frontal gyrus
- ganglionic eminence
- entorhinal cortex
- parietal lobe
|
| Top expressed in | - medial dorsal nucleus
- superior cervical ganglion
- subiculum
- lateral geniculate nucleus
- barrel cortex
- medial geniculate nucleus
- ventromedial nucleus
- paraventricular nucleus of hypothalamus
- dorsomedial hypothalamic nucleus
- nucleus accumbens
|
| More reference expression data |
|
---|
BioGPS | |
---|
|
|
|
Wikidata |
|
Close
Mutations in the L1 protein are the cause of L1 syndrome, sometimes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus).[6]