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	HGNC	UniGene	Nucleotide	OMIM		UCSC

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FLASH GENE

Symbol

TFAP2A

contributors: mct/npt/pgu - updated : 24-04-2019

HGNC name	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
HGNC id	11742

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL6PD , BOFS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in tumor growth and metastasis of melanoma cells tumoral     --over   strongly expressed in poorly differentiated neuroblastomas constitutional     --low   accompanied by altered patterning of the forelimb, resulting in postaxial polydactyly

Susceptibility

potentially susceptibility gene for spina-bifida to Orofacial clefts

Variant & Polymorphism SNP	1257C
	de novo mutations in IRF6, TFAP2A, and ZFHX4 are associated with Orofacial clefts

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS