L1CAM, Official Symbol L1CAMprovided by HGNC Official Full Name L1 cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:6470 See related Ensembl:ENSG00000198910 MIM:308840; AllianceGenome:HGNC:6470 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as S10; HSAS; HYCX; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1 Summary 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] Expression Biased expression in brain (RPKM 23.7), adrenal (RPKM 13.5) and 9 other tissues See more Orthologs mouse all