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FLASH GENE
Symbol CRYAA contributors: mct/npt/pgu - updated : 22-02-2010
HGNC name crystallin, alpha A
HGNC id 2388
PROTEIN
PHYSICAL PROPERTIES acid
STRUCTURE
motifs/domains
  • an N-ter involved in multimerization
  • a C-terminus with the alpha cristallin domain responsible for chaperone function, C-terminal flexible arm significantly affecting the interaction with target proteins, and needed to keep the chaperone-target protein complex soluble
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Cryaa (94,80 pc)
    Homologene
    FAMILY
  • alpha crystallin superfamily
  • small heat shock protein (sHSP or HSP20) subfamily
    • CATEGORY chaperone/stress , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
  • preventing the aggregation of other crystallins and proteins
  • involved in chaperone activity
  • potentially involved in maintenance of cytoskeletal network in muscle
  • survival-promoting protein that enhances cellular resistance to apoptosis
  • molecular chaperones that protect vertebrate eye lens proteins from detrimental protein aggregation
  • a lens chaperone that plays an essential role in the transparency and refractive properties of the lens
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • complexing with CRYAB (ratio AA3/AB1) (30-40 subunits,600-800 kDa)
  • aggragating with alpha B in a 3:1 ratio
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CRYAB
    • cell & other
    REGULATION
    inhibited by methionine oxidation in combination with loss of MSRA repair which causes loss of alpha-crystallin chaperone function
    ASSOCIATED DISORDERS
    corresponding disease(s) ADCC1 , ARCC1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS