GeneID: 112
Names
| Common Name: | NRCAM | Type: | Gene |
|---|---|---|---|
| Chromosome: | 7 (NC_000007.14) | Locus: | NG_029898.1 (NRCAM) |
| HUGO Symbol: | NRCAM | Full Name: | neuronal cell adhesion molecule |
| Exons: | 31 | Introns: | 30 |
Description:
The encoded protein is a cell adhesion molecule (CAM) belonging to the L1-family of CAMs within the immunoglobulin (Ig)-like superfamily. Members of this family are predominantly expressed in the nervous system. They are surface membrane glycoproteins composed of multiple C2-type Ig-like extracellular domains and fibronectin type-III repeats, followed by a transmembrane region and a highly conserved cytoplasmic tail. The NRCAM is implicated in cell-cell contact via interaction with L1-CAMs and other molecules in plasma membrane, as well as molecules in the environment and signalling systems, thereby playing a critical role in neural development, including axon growth, guidance and formation of the myelinated nerve structure, synapse formation, and accumulation of sodium channels at heminodes for rapid saltatory propagation of action potentials. The dysfunction of NRCAM has been associated with psychiatric disorders and cancer. Polymorphisms in this gene associated with acute chest syndrome, a type of severe vaso-occlusive episode, in sickle cell patients. Alternative splicing results in multiple transcript variants encoding different isoforms.
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 0
Publications / Origin
- Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010
- Sakurai T, The role of NrCAM in neural development and disorders--beyond a simple glue in the brain., Mol. Cell. Neurosci. , 49(3), 351-63, 2012