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FLASH GENE

Symbol

GNAS

contributors: mct/npt - updated : 08-09-2009

HGNC name	GNAS complex locus
HGNC id	4392

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MCAS , PHP1A , PHP1B , PHP1C , PPHP , POH , PAD , DEL20Q13

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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