L1CAM-De lo publicado por Joan Massague

01.03.2014

L1CAM L1 cell adhesion molecule [ Homo sapiens (human) ]

Gene ID: 3897, updated on 23-Feb-2014

Summary

Official Symbol: L1CAMprovided by HGNC
Official Full Name: L1 cell adhesion moleculeprovided by HGNC
Primary source: HGNC:6470
See related: Ensembl:ENSG00000198910; HPRD:02394; MIM:308840; Vega:OTTHUMG00000024221
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; 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]