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FLASH GENE
Symbol GNAS contributors: mct/npt - updated : 08-09-2009
HGNC name GNAS complex locus
HGNC id 4392
ASSOCIATED DISORDERS
corresponding disease(s) MCAS , PHP1A , PHP1B , PHP1C , PPHP , POH , PAD , DEL20Q13
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
by partial and complete hypomethylation in Beckwith-Wiedemann syndrome (Bliek (2009)
Susceptibility
  • to severe malaria
  • to vasovagal syncope
  • Variant & Polymorphism SNP
  • three SNP presenting significant associations with severe malaria were clustered at the 5-prime end (Auburn 2008)
  • mutation T/C inside codon 131 causes the increased activation of adenyl cyclase, which plays an important role in cardiovascular regulation, and predisposes to vasovagal syncope (Lelonek 2008)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS