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L1CAM GeneL1 cell adhesion molecule 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 X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013] |
l1cam Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term l1cam in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
L1CAM Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for L1CAM from the Pathway Commons Protein-Protein Interactions dataset. |
L1CAM Gene SetFrom LINCS L1000 CMAP CRISPR Knockout Consensus Signatures genes differentially expressed following the L1CAM gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. |
L1CAM Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the L1CAM gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |
L1CAM interactions Gene Setproteins participating in the L1CAM interactions pathway from the Reactome Pathways dataset. |
L1CAM interactions Gene Setproteins participating in the L1CAM interactions pathway from the Reactome Pathways 2024 dataset. |
L1CAM-related disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the L1CAM-related disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |