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Symbol CRYBB1 contributors: mct - updated : 09-04-2019
HGNC name crystallin, beta B1
HGNC id 2397
PROTEIN
PHYSICAL PROPERTIES basic
STRUCTURE
motifs/domains
  • an ABAB pattern, structural motif with characteristic of the beta-gamma crystallin superfamily
  • two domains beta-structure folded into four very similar greek key motifs, linked by a connecting peptide and N- and C-terminal extensions
    • mono polymer homomer , heteromer , dimer , complex
    HOMOLOGY
    interspecies ortholog to murine Crybb1
    homolog to C.elegans ZC53.6
    Homologene
    FAMILY
  • beta-gamma crystallin superfamily
  • beta basic group member
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    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
    a component dominant structural component of the eye lens
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CCA2 , ARCC2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS