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Gene information for L1CAM (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3897
Official gene symbolL1CAM
Full nameL1 cell adhesion molecule
Aliases,CAML1,CD171,HSAS,HSAS1,MASA,MIC5,N-CAML1,S10,SPG1,
Gene summaryThe 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]
LocationChromosome: X   Locus: Xq28
Gene position153141399 - 153126971  Map Viewer
Gene orientationminus
Gene size14429 bp
Gene sequence
OMIM ID308840