The CHL1 gene encodes a protein of 1208 amino acids and weights about 135 kDa. It is an extracellular matrix, a cell adhesion protein, and a member of the L1 gene family of neural cell adhesion molecules that may be involved in signal transduction pathways. It also plays an important role in nervous system development and in synaptic plasticity. Also it may play a role in cell migration regulation, in the nerve regeneration, and in cortical development.

The CHL1 gene is mapped to chromosome 3p26.3. It consists of 25 coding exons and spans approximately 213 kb of genomic DNA. Mutations of the CHL1 gene may cause mental retardation in patients with 3p- syndrome. Also it plays a role in the growth of certain cancers. Some studies suggest that CHL1 gene polymorphisms may be associated with schizophrenia.