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FLASH GENE

Symbol

TPM1

contributors: mct/npt - updated : 06-06-2012

HGNC name	tropomyosin 1 (alpha)
HGNC id	12010

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMH3 , CMD1Y , LVNC3

related resource

FHC Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in breast cancer through hypermethylation of and chromatin remodeling

Susceptibility

to metabolic syndrome to clubfoot

Variant & Polymorphism other	polymorphism in the TPM1 short isoform promoter region is predicted to alter transcription factor binding, alters gene expression and is associated with the metabolic syndrome
	variants influencing risk for isolated clubfoot

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS