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FLASH GENE

Symbol

L1CAM

contributors: mct/shn - updated : 17-01-2012

HGNC name	L1 cell adhesion molecule
HGNC id	6470

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HSAS , MASA , SPG1

related resource

L1CAM Mutation Web Page

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     contiguous gene syndrome encompassing AVPR2, in patients with congenital hydrocephalus and diabetes insipidus tumoral     --low   by hypomethylation at the L1CAM CpG islands might induce L1CAM aberrant expression and contribute to the acquisition of aggressive tumor behavior in colorectal cancer tumoral     --over   in pancreatic cancer constitutional     --over   in intestinal epithelial cells in tissues from inflammatory bowel disease (IBD) patients but not in normal colonic tissues

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology     offer novel therapeutic perspectives for the treatment of certain immunological disorders tumor     blockade of L1CAM binding to integrins abrogates L1CAM-induced tumour growth and reduces L1CAM-mediated chemoresistance cancer     a target for treatment of cancer with monoclonal antibodies

ANIMAL & CELL MODELS

	Cerebellar granule neurons expressing a deletion mutant of L1CAM lacking the cytoplasmic domain (hL1-1147) show a reduced branching of neurites (
	L1-6D mutant mice, homozygous for a deletion removing the sixth immunoglobulin-like domain of L1cam, seldom display hydrocephalus on the 129/Sv background, while the same L1-6D mutation produces severe hydrocephalus on the C57BL/6J background (
	L1cam knockout mice have hydrocephalus, a small cerebellum, hyperfasciculation of corticothalamic tracts, and abnormal peripheral nerves (
	Enhanced expression of L1-CAM may contribute to the pain syndrome and perineural invasion and may correlate with poor overall survival in human pancreatic cancer (
	L1CD mutant lines that lack the ankyrin-binding region display normal brain morphology but the expression of L1 protein in the adult is dramatically reduced and they show defects in motor function (
	L1CAM expression leads to the activation of the nuclear factor (NF)-&
	954;B pathway, promoting cell proliferation in vitro and metastasis formation in vivo (