TPM4 Chromosome 19

Tropomyosin 4
3 variants 3 Health Risk

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What This Gene Does
This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Tropomyosins
Locus Type
gene with protein product
Location
19p13.12-p13.11
Ensembl
ENSG00000167460
Associated Conditions (3)
Bleeding disorder
platelet-type
25
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS2090489083 Health Risk Pathogenic Bleeding disorder, platelet-type, 25
RS2512689549 Health Risk Pathogenic Bleeding disorder, platelet-type, 25
RS752488156 Health Risk Pathogenic Bleeding disorder, platelet-type, 25
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