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FLASH GENE

Symbol

GTF2I

contributors: shn/npt/pgu - updated : 28-06-2018

HGNC name	general transcription factor IIi
HGNC id	4659

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

WBS , DUP7Q11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   haploinsufficiency is associated with the characteristic craniofacial and neurodevelopmental pathologies of WBS

Susceptibility

to separation anxiety

Variant & Polymorphism other	association between a major anxiety disorder and change in copy number of a single gene provides a starting point for understanding the molecular basis of anxiety

Candidate gene	increase in social interaction
	separation anxiety in humans and mice
Marker
Therapy target

ANIMAL & CELL MODELS

heterozygous deletion in the Gtf2i gene in mice exhibits craniofacial and general osteogenic defects