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FLASH GENE
Symbol CRYM contributors: - updated : 03-05-2007
HGNC name crystallin, mu
HGNC id 2418
Corresponding disease
DFNA40 neurosensory deafness 40
Location 16p13.11-p12.3      Physical location : 21.269.838 - 21.314.404
Synonym name
  • NADP-regulated thyroid-hormone binding protein
  • mu-crystallin homolog
  • Synonym symbol(s) THBP
    DNA
    TYPE functioning gene
    STRUCTURE 44.00 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1303 33.8 314 - Abe
    - - 1255 29.4 272 - Abe
    supplementary 5" exon, shorter N ermnus
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnervestibule  
     earinnercochlea  
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarykidney    
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory  
    Muscularstriatumskeletal  
    Nervouscentral   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    ODC_Mu_crystall domain
    HOMOLOGY
    interspecies homolog to murine Crym
    Homologene
    FAMILY ornithine cyclodeaminase/mu-crystallin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved in normal auditory function
  • involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptor
  • contributing to the refractive index and transparency of lens
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA40
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS