Titin-cap
Sign in to saveAlso known as limb girdle muscular dystrophy 2G (autosomal recessive), telethonin, teneurin C-terminal associated peptide, TCAP, titin cap protein, 19 kDa sarcomeric protein
Telethonin, also known as Tcap, is a protein that in humans is encoded by the TCAP gene. Telethonin is expressed in cardiac and skeletal muscle at Z-discs and functions to regulate sarcomere assembly, T-tubule function and apoptosis. Telethonin has been implicated in several diseases, including limb-girdle muscular dystrophy, hypertrophic cardiomyopathy, dilated cardiomyopathy and idiopathic cardiomyopathy.
Protein · UniProt
Telethonin
- Gene
- TCAP
- Organism
- Homo sapiens (Human)
- Length
- 167 aa
- Molecular mass
- 19,052 Da
- Evidence
- 1: Evidence at protein level
Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk
Swiss-Prot (reviewed) · via UniProt
Clinical Trials
1 registered- RECRUITINGCongenital Muscle Disease Study of Patient and Family Reported Medical InformationCure CMD · NCT01403402
~5 min read
Encyclopedic overview
7 sectionsContents
- Structure
- Function
- Clinical Significance
- Interactions
- References
- Further reading
- External links
Telethonin, also known as Tcap, is a protein that in humans is encoded by the TCAP gene. Telethonin is expressed in cardiac and skeletal muscle at Z-discs and functions to regulate sarcomere assembly, T-tubule function and apoptosis. Telethonin has been implicated in several diseases, including limb-girdle muscular dystrophy, hypertrophic cardiomyopathy, dilated cardiomyopathy and idiopathic cardiomyopathy.
==Structure== Telethonin is a 19.0 kDa protein composed of 167 amino acids. Telethonin has a unique β-sheet structure, which enables antiparallel association with the Titin Z1-Z2 domains in cardiac and skeletal muscle. Structural analysis of full-length Telethonin with the N-terminal region of Titin indicate that the C-terminus of Telethonin is critical for the dimerization of two Telethonin/Titin complexes into a higher oligomeric structure.
Excerpted from Wikipedia’s “Titin-cap” article, available under the CC BY-SA 4.0 licence.