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FLASH GENE

Symbol

GTF2IRD1

contributors: mct/npt - updated : 18-01-2018

HGNC name	GTF2I repeat domain containing 1
HGNC id	4661

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

WBS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   significantly reduced in fibroblasts from WBS patients (Palmer 2010) tumoral     --over   in human breast tumors, correlating with high tumor grades and poor prognosis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Gtf2ird1-null mice also demonstrate abnormal M cone and rod electrophysiological responses
	Gtf2ird1 null mice showed higher auditory thresholds (hypoacusis) in both auditory brainstem response (ABR) and the distortion product of otoacoustic emissions (DPOAE) hearing assessments