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FLASH GENE
Symbol GJA3 contributors: mct/npt/shn - updated : 04-06-2012
HGNC name gap junction protein, alpha 3, 46kDa
HGNC id 4277
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative membrane spanning alpha helices, separating the N terminal intracellular domain
  • two extracellular loops
  • a C terminal intracellular domain
    • HOMOLOGY
    interspecies ortholog to Gja3,Mus musculus
    ortholog to Gja3, Rattus norvegicus
    ortholog to gja3, Danio rerio
    ortholog to GJA3, Pan troglodytes
    Homologene
    FAMILY
  • connexin family
  • alpha-type (group II) subfamily
    • CATEGORY regulatory , structural protein , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • gap junction protein, water channel properties
  • playing a vital role in the maintenance of lens transparency
  • fiber cell gap junction protein regulated by protein kinase Cgamma (PRKCG) (Lin 2004)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cell to cell transport
    PATHWAY
    metabolism
    signaling sensory transduction/hearing , sensory transduction/vision
    a component
  • monomer constituent of the connexon (six subunits, including GJA3, GJA8, GJB1, GJB2), docking with its counterpart in the neighboring cell to form the gap junction channel
  • major intrinsic protein constituent of lens fiber
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • connexin43, Cx43 (
  • ZO-1 (
  • PKCgamma and Cav-1 (
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CZP3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice homozygous for the disrupted alpha3 gene developed nuclear cataracts that were associated with the proteolysis of crystallins (
  • Targeted null mutations in Gja3 in mice cause cataracts with recessive inheritance (
  • double mutant offspring between Lop10 and the Gja3(tm1) (alpha 3(-/-)) mice showed relatively normal lens cortical fibers (