Gene: TCAP

Alternate names for this Gene: CMD1N|CMH25|LGMD2G|LGMDR7|T-cap|TELE|telethonin

Gene Summary: Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: titin-cap

Type of Gene: protein-coding

rs113612868 in TCAP gene and Asthma PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.

rs773317399 in TCAP gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 PMID 16352453 2006 Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

PMID 15582318 2004 Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.

rs104894655 in TCAP gene and Cardiomyopathy, Dilated PMID 10655062 2000 Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

rs931992 in TCAP gene and High density lipoprotein measurement PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.