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FLASH GENE
Symbol TUBA8 contributors: mct/npt - updated : 03-12-2009
HGNC name tubulin, alpha 8
HGNC id 12410
Corresponding disease
PMGOH polymicrogyria with optic nerve hypoplasia
Location 22q11.21      Physical location : 18.593.452 - 18.614.498
Synonym name
  • tubulin, alpha-like 2
  • tubulin alpha chain-like 2
  • Synonym symbol(s) TUBAL2, TBA8
    DNA
    TYPE functioning gene
    STRUCTURE 20.94 kb     5 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
    5 - 2018 - 449 - Stanchi (2000)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrainforebraincerebral cortex highly
    Reproductivemale systemtestis   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text widely expressed in developing neural structures (Abdollahi 2009)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Tuba8
    Homologene
    FAMILY
  • tubulin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • major constituent of microtubules
  • may be playing a role in regulating mammalian brain development (Abdollahi 2009)
  • participates in microtubule assembly in mammalian cells (Abdollahi 2009)
  • implicated in a specific aspect of cerebral cortical development (Abdollahi 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PMGOH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS