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telethonin; titin cap protein (TCAP)
Function:
- muscle assembly regulating factor
- mediates antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk
- interacts with MYOZ1 & MYOZ3
- interacts directly with the N-terminal Ig-like domains of 2 titin (TTN) molecules
Structure:
- the C-terminal domain appears to be unstructured in solution; it may promote the assembly of higher order titin complexes
Compartment: cytoplasm, myofibril, sarcomere
Expression: heart & skeletal muscle
Pathology:
- defects in TCAP are a cause of
a) familial hypertrophic cardiomyopathy
b) limb-girdle muscular dystrophy type 2G
- defects in TCAP are the cause of dilated cardiomyopathy type 1N
General
other protein
Properties
SIZE: entity length = 167 aa
MW = 19 kD
COMPARTMENT: cytoplasm
Database Correlations
OMIM correlations
MORBIDMAP 604488
UniProt O15273
Pfam PF09470
Entrez Gene 8557
Kegg hsa:8557
References
- UniProt :accession O15273
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TCAP