Mutations in the L1CAM gene can lead to a spectrum of neurological disorders known as L1 syndrome, which includes conditions such as X-linked hydrocephalus and MASA syndrome. These disorders are characterized by intellectual disability, spastic paraplegia, and other neurological deficits.
In the context of cancer, overexpression of L1CAM is associated with tumor progression and metastasis. It has been identified as a potential target for cancer therapy, and efforts are underway to develop treatments that specifically target L1CAM-expressing cells.
