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FLASH GENE
Symbol CRYBB3 contributors: mct - updated : 26-10-2018
HGNC name crystallin, beta B3
HGNC id 2400
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two ABAB pattern, structural motif characterisitc of the beta-gamma crystallin superfamily
  • four greek key motifs
    • mono polymer homomer , heteromer , dimer , complex
    HOMOLOGY
    interspecies ortholog to murine Crybb3
    homolog to C.elegans Y71H2AM.J
    Homologene
    FAMILY
  • crystallin superfamily
  • beta/gamma-crystallin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
  • is one of 11 major soluble proteins in the young human lens
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    photoreception
    a component
  • homo/heterodimer or complexes of higher order
  • structure of the beta-crystallin oligomers stabilized through interactions between the N-terminal arms
  • being the dominant structural components of the vertebrate eye lens
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCC6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    G165R in 2 pakistani families with autosomal recessive congenital nuclear cataract (Riazuddin,05)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS