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FLASH GENE
Symbol TFAP2B contributors: mct/npt - updated : 01-07-2012
HGNC name transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
HGNC id 11743
ASSOCIATED DISORDERS
corresponding disease(s) CHAR
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
causing isolated patent ductus arteriosus without other clinical features (Khetyar 2008)
Susceptibility
  • to type 2 diabetes
  • to female alcoholism
  • Variant & Polymorphism SNP
  • increasing the risk of type 2 diabetes
  • high-functioning allele was significantly more common among the female alcoholics, compared to the non-alcoholic controls (Nordquist 2009)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS