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FLASH GENE
Symbol MUC5B contributors: mct - updated : 20-02-2012
HGNC name mucin 5, subtype B, tracheobronchial
HGNC id 7516
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
activated in gastric cancer (highly active distal promoter, upregulated by protein kinase C and repressed under the influence of methylation)
constitutional     --over  
in the airways of individuals with chronic respiratory diseases
constitutional     --over  
in chronic rhinosinusitis (CRS)
Susceptibility to familial interstitial pneumonia and idiopathic pulmonary fibrosis
Variant & Polymorphism other
  • a common polymorphism in the promoter of MUC5B is associated with familial interstitial pneumonia and idiopathic pulmonary fibrosis
  • Candidate gene
    Marker
  • a long rare MUC5B-MS6 alleles could be used to identify the risk of bladder cancer
  • Therapy target
    ANIMAL & CELL MODELS