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	HGNC	UniGene	Nucleotide	OMIM		UCSC

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FLASH GENE

Symbol

SIX1

contributors: mct/npt/pgu - updated : 22-01-2014

HGNC name	SIX homeobox 1
HGNC id	10887

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BOS3 , DFNA23 , BOR3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in metastatic rhabdomyosarcoma constitutional     --over   can attenuate a DNA damage-induced G(2) cell cycle checkpoint tumoral     --low   in 44 p100 of primary breast cancers and 90 p100 of metastatic lesions tumoral     --over   in osteosarcoma cell lines compared to human osteoblastic cell line

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer bone   inhibition of SIX1 promotes apoptosis, suppresses proliferation, and migration of osteosarcoma cells

ANIMAL & CELL MODELS

	Six1-deficient mice lack kidneys, but form ureters
	Six1(-/-) embryos and newborn mice exhibit mesenchymal overproliferation, decreased Fgf10 expression and severe defects in the smooth muscle component of the bronchi and major pulmonary vessels