TCAP Products

Description

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]

Bioinformatics

Entrez	8557 Human
Uniprot	AAH12628 Human AAH13330 Human NM_003673 Human NP_003664.1 Human O15273 Human
Product By Gene ID	8557
Alternate Names	19 kDa sarcomeric protein CMD1NTitin cap protein LGMD2G limb girdle muscular dystrophy 2G (autosomal recessive) T-cap TELE telethonin titin-cap (telethonin)