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FLASH GENE

Symbol

LAMA4

contributors: mct/npt - updated : 07-01-2014

HGNC name	laminin, alpha 4
HGNC id	6484

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1JJ

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         splicing variant with hexapeptide insertion in glioma and neuroblastoma constitutional germinal mutation       2 novel amino acid residue-altering mutations (2828C>T [Pro943Leu] and 3217C>T [Arg1073X]) in the integrin-interacting domain of the LAMA4 gene and 1 mutation (785C>T [Ala262Val]) in the ILK gene in dilated cardiomyopathy (Knoll 2007) tumoral     --over   in hepatocellular carcinomas, strongly correlated with tumor invasion, incomplete or no envelope and tumor bolt (Huang 2008)

Susceptibility

Variant & Polymorphism

Candidate gene	probably a novel supplementary marker for HCC diagnosis
Marker
Therapy target
	System Type Disorder Pubmed cancer     might be a molecular target in the future cancer therapy

ANIMAL & CELL MODELS

	mice lacking the presynaptic organizer Lama4 retained most of the synaptic cleft components but exhibited synaptic alterations reminiscent of those observed in aged animals
	reduced ability of immune cells to penetrate the vessel wall in mice deficient in Lama4