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FLASH GENE
Symbol CRYBA4 contributors: mct - updated : 09-04-2019
HGNC name crystallin, beta A4
HGNC id 2396
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two ABAB pattern, structural motif characteristic of the beta-gamma crystallin superfamily
  • four beta/gamma crystallin greek key motifs
    • conjugated Other
    mono polymer homomer , heteromer , dimer , complex
    HOMOLOGY
    interspecies ortholog to murine Cryba4
    homolog to C.elegans Y47D3B.4
    Homologene
    FAMILY
  • crystallin superfamily, beta acidic group member
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
  • lens crystallin genes, CRYBA4 and CRYBB1, can be simultaneously transcribed from adjacent bidirectional promoters and do not show nuclear accumulation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    photoreception
    a component
  • homo/heterodimer or complexes of higher order
  • structure of oligomers stabilized through interactions between the N-terminal arms
  • being the dominant structural component of the vertebrate eye lens
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CATM2
    Susceptibility to high myopia
    Variant & Polymorphism other
  • rs2009066, was previously reported to be associated with high myopia in a southern Chinese population
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS