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FLASH GENE
Symbol CRYAB contributors: mct/shn - updated : 02-10-2012
HGNC name crystallin, alpha B
HGNC id 2389
Corresponding disease
CMD1II cardiomyopathy, dilated, 1II
CPP2 cataract posterior, polar congenital 2
DRM desmin related myopathy with cataract
MMFIH myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related
Location 11q23.1      Physical location : 111.779.349 - 111.782.473
Synonym name
  • heat-shock 20KD like-protein
  • NY-REN-27 antigen
  • Rosenthal fiber component
  • renal carcinoma antigen NY-REN-27
  • heat shock protein beta-5
  • alpha(B)-crystallin
  • alpha B crystallin
  • alpha crystallin B chain
  • alpha-crystallin B chain
  • renal carcinoma antigen NY-REN-27
  • Synonym symbol(s) CRYA2, CTPP2, CRAB, HSPB5
    DNA
    TYPE functioning gene
    STRUCTURE 3.12 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D11S1893 - D11S1793 - CRYAB - D11S4192 - D11S1347 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 691 - 175 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinethyroid   moderately
    Hearing/Equilibriumearinnercochlea moderately
    Nervousnervecranial nerve  moderately
    Reproductivefemale systembreastmammary gland moderately
    Respiratoryrespiratory tractlarynx  moderately
    Visualeyelens  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  moderately
    Epithelial   lowly
    Muscularstriatumcardiac highly
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text fetal eye, lens, umblilical cord
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • N-terminal domain involved in multiple interactions that enable the formation of various oligomers and binding to denatured proteins, thereby enabling chaperone-like activities, and the hydrophobic region (AAs 4158) of the N-terminal domain is involved in the recognition of denatured protein
  • a C-ter with the alpha cristallin domain responsible for chaperone function, undergoing many post-translational modifications, noteworthy phosphorylation and cleavage
  • mono polymer heteromer , aggregate , complex
    HOMOLOGY
    interspecies ortholog to Cryab, Rattus norvegicus
    ortholog to Cryab, Mus musculus
    ortholog to CRYAB, Pan troglodytes
    ortholog to cryaba, Danio rerio
    intraspecies homolog to CRYAA
    Homologene
    FAMILY
  • alpha crystallin superfamily
  • small heat shock protein (sHSP or HSP20) subfamily
  • CATEGORY chaperone/stress , motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
  • preventing the aggregation of the crystallins and proteins
  • having chaperone-like activity
  • involvend in maintenance of cytoskeletal network in muscle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    photoreception
    a component
  • complexing with CRYAA (ratio AA3/AB1) (30-40 subunits, 600-800 kDa)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CRYAA and HSP28 with PSMA7
  • proteasomal subunit C8/alpha7 (
  • citrate synthase (
  • betaB2- or gammaC-crystallins (
  • TITIN, TTN (
  • Bax and Bcl-X(S) (
  • Alzheimer's disease beta-amyloid peptide (
  • histone deacetylase inhibitor, HDACI (
  • LBH
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DRM , CPP2 , CMD1II , MMFIH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
          --over  
    in Alexander disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cryab-/- mice showed worse experimental autoimmune encephalomyelitis at the acute and progressive phases, with higher Th1 and Th17 cytokine secretion from T cells and macrophages, and more intense central nervous system inflammation (
  • AxD mouse models that loss of Cryab results in increased mortality (