rs2057247244
This variant is located in the TCAP gene.
▶ClinVar annotation
Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 25
View on ClinVar →About TCAP
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. [provided by RefSeq, Jul 2008]
View all TCAP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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