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FLASH GENE
Symbol LAMA4 contributors: mct/npt - updated : 07-01-2014
HGNC name laminin, alpha 4
HGNC id 6484
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four laminin A/neurexin/sex hormone-binding (LNS) globular domains
  • multiple EGF-like motifs within the N terminal short arm allowing the self assembly of chains through interactions of the most terminal globular domain (VI)
  • a long arm composed of heptad repeats typical of a cell alpha helical coiled-coil protein
  • an integrin-interacting domain
  • five laminin G-like globular domains,binding to integrins and/or dystroglycan in the C terminal region
    • conjugated GlycoP
    mono polymer heteromer , monomer
    HOMOLOGY
    interspecies homolog to murine Lama4 (88.75 pc)
    Homologene
    FAMILY
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
    text
  • in the basement membranes (BMs)(major component)
  • localized in vascular BMs
    • basic FUNCTION
  • major noncollagenous constituent of basement membranes, mediating the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of cutaneous basement membrane zone, forming heteromeric molecule with a beta and a gamma chain
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1JJ
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    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