Aliases for CHL1 Gene
External Ids for CHL1 Gene
Previous GeneCards Identifiers for CHL1 Gene
The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]
GeneCards Summary for CHL1 Gene
CHL1 (Cell Adhesion Molecule L1 Like) is a Protein Coding gene. Diseases associated with CHL1 include Large Cell Carcinoma With Rhabdoid Phenotype and Myositis Fibrosa. Among its related pathways are Developmental Biology and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include protease binding. An important paralog of this gene is NRCAM.
UniProtKB/Swiss-Prot Summary for CHL1 Gene
Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity).