| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk. SUBUNIT: Interacts with MYOZ1 and MYOZ3. Interacts directly with the N-terminal Ig-like domains of 2 titin (TTN) molecules. SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere. TISSUE SPECIFICITY: Heart and skeletal muscle. DISEASE: Defects in TCAP are a cause of familial hypertrophic cardiomyopathy (CMH) [MIM:192600]; also designated FHC or HCM. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. DISEASE: Defects in TCAP are a cause of limb-girdle muscular dystrophy type 2G (LGMD2G) [MIM:601954]. LGMD2G is an autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients. DISEASE: Defects in TCAP are the cause of cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. MISCELLANEOUS: The C-terminal domain appears to be unstructured in solution. It may promote the assembly of higher order TTN complexes. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TCAP"; GENE SYNONYMS:TCAP. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 167 AA; 19052 MW; A3B0E27D8C84F6C5 CRC64;
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| biopax3:xref | |
| biopax3:displayName |
TELT_HUMAN
|
| biopax3:name |
TCAP,
Titin cap protein
|
| biopax3:organism | |
| biopax3:sequence |
MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVLVQRSPWLMMRMGILGRGLQEYQLPYQRVLPLPIFTPAKMGATKEEREDTPIQLQELLALETALGGQCVDRQEVAEITKQLPPVVPVSKPGALRRSLSRSMSQEAQRG
|
| biopax3:standardName |
Telethonin
|