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FLASH GENE
Symbol PDLIM3 contributors: mct - updated : 22-10-2011
HGNC name PDZ and LIM domain 3
HGNC id 20767
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one LIM zinc-binding domain
  • one PDZ/DHR domain
  • a ZASP-like motif, between PDZ and LIM domains, required for the interaction of PDLIM3 internal region with the alpha-actinin rod and for targeting to the Z-line
    • HOMOLOGY
    interspecies ortholog to rattus pdlim3
    ortholog to murine Pdlim3
    Homologene
    FAMILY ALP subfamily of PDZ-LIM proteins
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • may be acting as an adapter that brings other proteins to the cytoskeleton
  • critical role on muscle differentiation, likely via cytoskeletal regulation of SRF
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Zn2+
    protein
  • binds ACTN2 in the Z-discs of muscle, and the ZASP-like motif is needed for this interaction
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in gastric cancer
    constitutional germinal mutation      
    abnormal PDLIM3 splicing affects the heart more than the skeletal muscles in patients with DM1
    Susceptibility to dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • PDLIM3-/- mice develop cardiomyopathy that resembles human arrhythmogenic right ventricular cardiomyopathy (ARVD/C) with mild left ventricular involvement