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FLASH GENE

Symbol

BMP6

contributors: mct - updated : 26-06-2013

HGNC name	bone morphogenetic protein 6
HGNC id	1073

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in advanced stages of myelofibrosis constitutional germinal mutation       might cause iron overload with severe juvenile hemochromatosis tumoral     --over   in prostate cancer and associated with bone forming skeletal metastasis constitutional     --low   in RPE cells in early AMD may contribute to iron build-up in age-related macular degeneration (AMD) constitutional     --low   decreased hepcidin levels, and increased hepatic iron

Susceptibility

to drepanocytosis with reduced gravity (increasing HBF level)

Variant & Polymorphism SNP	SNP associated with paucisymptomatic drepanocyosis

Candidate gene
Marker	BMP6 activity could be used as a prognostic indicator in prostate, bladder and colorectal cancers
	BMP6, NOG and SOST could be used in combination as a prognostic indicator in cancer progression
Therapy target

ANIMAL & CELL MODELS

	despite their severe iron overload, the livers of Bmp6-deficient mice have low levels of phosphorylated Smad1, Smad5 and Smad8, and these Smads are not significantly translocated to the nucleus
	Bmp6(-/-) mice had age-dependent retinal iron accumulation and degeneration