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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
ASSOCIATED DISORDERS
corresponding disease(s) WBS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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