Telethonin
| Telethonin | ||
|---|---|---|
|
||
| according to PDB 1ya5 | ||
| Properties of human protein | ||
| Mass / length primary structure | 167 AA, 19 kDa | |
| Identifier | ||
| Gene name | TCAP | |
| External IDs | ||
Telethonin also titin cap protein , is a predominantly in muscle and cardiac muscle cells of eukaryotes occurring protein . In humans, it is encoded by the TCAP gene and is located on the long arm of chromosome 17 (17q12).
function
Telethonin is a structural protein found in the Z-disk of the sarcomere of muscle cells. It has two binding sites for titin , a protein that is anchored between the two Z-disks. In addition, it interacts with myozenin-1, myozenin-2, myozenin-3, cysteine and glycine-rich protein 3, and ankyrin repeat domain-containing protein 2.
Medical importance
Mutations in the TCAP gene were found in limb girdle dystrophy 2G (LGMD2G), familial hypertrophic cardiomyopathy and a form of dilated cardiomyopathy (CMD1N).
literature
- P. Zou, N. Pinotsis, et al. a .: Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk. In: Nature. Volume 439, number 7073, January 2006, pp. 229-233, doi : 10.1038 / nature04343 . PMID 16407954 .
- G. Valle, G. Faulkner, et al. a .: Telethonin, a novel sarcomeric protein of heart and skeletal muscle. In: FEBS letters. Volume 415, Number 2, September 1997, pp. 163-168, PMID 9350988 .