Family

Telethonin (IPR015667)

Short name: Telethonin

Family relationships

None.

Description

Telethonin is found at the Z-disc of sarcomeres. It is the phosphorylation target of the kinase domain of titin, and is thought to play a role in muscle development [PMID: 9804419, PMID: 10481174]. Deletion of the C terminus of titin, including the kinase domain, has been found to impair myofibrillogenesis [PMID: 14600266]. Mutations of telethonin cause limb-girdle muscular dystrophy type 2G [PMID: 12379311].

Telethonin is a 167-residue protein which complexes with the large muscle protein, titin. The very N terminus of titin, composed of two immunoglobulin-like (Ig) domains, referred to as Z1 and Z2, interacts with the N-terminal region (residues 1-53) of telethonin, mediating the antiparallel assembly of two Z1Z2 domains. The C terminus of telethonin appears to induce dimerisation of this 2:1 titin/telethonin structure which thus forms a complex necessary for myofibril assembly and maintenance of the intact Z-disk of skeletal and cardiac muscles [PMID: 16713295].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER
Pfam