Gene: TPM1-AS

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: TPM1

Alternate names for this Gene: C15orf13|CMD1Y|CMH3|HEL-S-265|HTM-alpha|LVNC9|TMSA

Gene Summary: This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy.

Gene is located in Chromosome: 15

Location in Chromosome : 15q22.2

Description of this Gene: tropomyosin 1

Type of Gene: protein-coding

rs11071720 in TPM1-AS;TPM1 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11071720 in TPM1-AS;TPM1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11071720 in TPM1-AS;TPM1 gene and Platelet mean volume determination (procedure) PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.