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FLASH GENE

Symbol

THBS1

contributors: mct/npt/pgu - updated : 20-08-2014

HGNC name	thrombospondin 1
HGNC id	11785

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 liver, brain, pancreas, bone cancer in response to EGF and TGFB1 tumoral     --low   low expressed by hypermethylation in gastric carcinoma constitutional germinal mutation     loss of function in familial pulmonary hypertension constitutional     --low   in HELLP syndrome

Susceptibility

to thoracic aortic aneurysm (TAA) in hypertensive patients

Variant & Polymorphism other	the 3949T-->G (3prime untranslated region) polymorphism is a risk factor for thoracic aortic aneurysm in hypertensive patients

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer bone   potential therapeutic target in Ewing sarcoma

ANIMAL & CELL MODELS

	TSP1-null and TSP2-null mice exhibit lower intraocular pressures
	TSP1-deficient mice were glucose intolerant, despite having an increased beta-cell mass