The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant. [provided by RefSeq, Jul 2008].
Płatek, Grycz, Więckowska, Czarkowska-Bauch, Skup: "L1 Cell Adhesion Molecule Overexpression Down Regulates Phosphacan and Up Regulates Structural Plasticity-Related Genes Rostral and Caudal to the Complete Spinal Cord Transection." in: Journal of neurotrauma, Vol. 37, Issue 3, pp. 534-554, (2020) (PubMed).
Wojciechowski, Głowacka, Wilczyński, Pękala-Wojciechowska, Malinowski: "The sL1CAM in sera of patients with endometrial and ovarian cancers." in: Archives of gynecology and obstetrics, Vol. 295, Issue 1, pp. 225-232, (2016) (PubMed).