CD171 Gene ID | 3897 |
CD171 Official Full Name | L1 cell adhesion molecule |
CD171 Alias | NCAM-L1, L1CAM |
CD171 Cellular Expression | T; B; Dendritic; Endothelial; Epithelial; Granulocyte; Macrophage; monocytes |
CD171 Ligand/Receptor/Association | L1, CD56, CD24, CD9, CD166 |
CD171 Function | Multidomain cell adhesion molecule required for normal neurohistogenesis |
CD171 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] |
Information from NCBI or Wiki
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