Entrez gene ID | | 3897 |
Official gene symbol | | L1CAM |
Full name | | L1 cell adhesion molecule |
Aliases | | ,CAML1,CD171,HSAS,HSAS1,MASA,MIC5,N-CAML1,S10,SPG1, |
Gene 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 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] |
Location | | Chromosome: X Locus: Xq28 |
Gene position | | 153141399 - 153126971 Map Viewer |
Gene orientation | | minus |
Gene size | | 14429 bp |
Gene sequence |
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OMIM ID | | 308840 |
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