L1CAM
LOCUS ID3897
GENE_SYMBOLL1CAM
GENE NAMEL1 cell adhesion molecule
SYNONYMNSS10 HSAS MASA MIC5 SPG1 CAML1 CD171 HSAS1 N-CAML1 NCAM-L1 N-CAM-L1
CHROMOSOMEX
HOMOLOGENE ID20128
microRNAsNANA
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 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]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. This study identified that higher PIP, THBS2 and/or NGAL levels were significantly associated with nephropathy of T2DM, and higher L1CAM but normal PIP, THBS2 or NGAL was significantly associated with retinopathy of T2DM.27446820