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FLASH GENE

Symbol

TPM3

contributors: mct/npt - updated : 30-05-2018

HGNC name	tropomyosin 3
HGNC id	12012

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NEM1 , CFTD3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fusion with NTRK1 in papillary thyroid carcinoma, with ALK in anaplastic large cell lymphoma tumoral fusion       with PDGFRB in chronic eosinophilic leukemia (Rosati 2006) tumoral     --over   may be important in esophageal squamous cell carcinoma (ESCC) invasion and metastasis (pMID: 28138712) constitutional   deletion     cause a hypercontractile congenital muscle stiffness phenotype tumoral fusion       TPM3-ALK fusion gene, is the main causes of Inflammatory myofibroblastic tumor (IMT)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	serum anti-TPM3, anti-TMOD3, anti-STOML2 could be new markers for the early diagnosis of endometriosis
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy congenital administration of troponin activators may constitute a promising therapeutic approach to minimize generalized skeletal muscle weakness in Nemaline myopathy

ANIMAL & CELL MODELS

Tm slow (Met 9Arg) mice