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FLASH GENE

Symbol

TFAP2B

contributors: mct/npt - updated : 01-07-2012

HGNC name	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
HGNC id	11743

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CHAR

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       causing isolated patent ductus arteriosus without other clinical features (Khetyar 2008)

Susceptibility

to type 2 diabetes to female alcoholism

Variant & Polymorphism SNP	increasing the risk of type 2 diabetes
	high-functioning allele was significantly more common among the female alcoholics, compared to the non-alcoholic controls (Nordquist 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS