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FLASH GENE

Symbol

TFB1M

contributors: mct - updated : 10-10-2013

HGNC name	transcription factor B1, mitochondrial
HGNC id	17037

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to type 2 diabetes (T2D)

Variant & Polymorphism other	SNP identifying TFB1M as a modifier gene for hearing loss associated with the homoplasmic A1555G mutation in the mitochondrial 12S rRNA gene
	common variant (rs950994) associated with reduced insulin secretion, elevated postprandial glucose levels, and future risk of T2D

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

transgenic-mtTFB1 mice exhibit enhanced 12S rRNA methylation in multiple tissues, increased E2f1 and apoptosis in the stria vascularis and spiral ganglion neurons of the inner ear, and progressive E2f1-dependent hearing loss