基因名:
L1CAM
产品别名:
CAML1; CD171; HSAS; HSAS1; MASA; MIC5; N-CAM-L1; N-CAML1; NCAM-L1; S10; SPG1; L1CAM; L1 cell adhesion molecule; L1 cell adhesion molecule; neural cell adhesion molecule L1; antigen identified by monoclonal antibody R1; L1-细胞粘附分子(L1CAM); 神经细胞粘附分子配体1;
背景信息:
L1cam (L1 cell adhesion molecule isoform 1 precursor) 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].