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FLASH GENE

Symbol

TPM2

contributors: mct/npt - updated : 09-05-2018

HGNC name	tropomyosin 2 (beta)
HGNC id	12011

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AMCD1 , NEM4 , SHHS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function impaired the differentiation of MSCs by significant reduction of adipogenesis and osteogenesis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
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 cancer reproductive breast may represent a promising therapeutic gene target for breast cancer patients with chemoresistance

ANIMAL & CELL MODELS

among the Tpm2 mutations associated with skeletal myopathies, the Tpm2E122K mutation was found to reduce Tpm2 expression and impair spatial learning and memory in rats