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FLASH GENE

Symbol

TIMP1

contributors: mct/npt/pgu - updated : 08-07-2015

HGNC name	TIMP metallopeptidase inhibitor 1
HGNC id	11820

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 constitutional     --over   in multiple sclerosis, liver fibrosis and left ventricular diastolic dysfunction with hypertension tumoral     --over   in acute myelogenous leukaemia constitutional     --over   in scarred keratoconic cornea tumoral     --low   in high expression of progesterone receptors in breast carcinoma tumoral   deletion     in colorectal cancer tumoral     --over   CCNL1 and TIMP1 expression was significantly elevated in breast cancer tissues compared with that in peri-breast cancer tissues constitutional     --low   in unrecognized overgrowth syndrome associated with increased cellular proliferation and defective collagen I deposition due to an imbalance between MMP and TIMP in fibroblasts constitutional     --over   plasma TIMP1 was elevated and correlated with TGFB1 in Duchenne muscular dystrophy (DMD) and congenital muscular dystrophy (CMD), but not in Becker muscular dystrophy

Susceptibility

Variant & Polymorphism other	demonstrating polymorphic X-chromosome inactivation

Candidate gene	prognostic marker in colorectal and breast cancer
Marker	relationship between higher plasma levels of TIMP1 and an adverse prognosis in patients with liver metastases, and plasma TIMP1 levels could help the detection of patients with worse outcome
	biomarker for thyroid cancer exhibiting differences in the correlation coefficients between benign and malignant samples that indicate its discriminatory power
Therapy target

ANIMAL & CELL MODELS