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
  • familial hypertrophic cardiomyopathy
  • limb-girdle muscular dystrophy type 2G
• defects in TCAP are the cause of dilated cardiomyopathy type 1N

More general terms

• other protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8557
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8557
• OMIM: https://mirror.omim.org/entry/192600
• OMIM: https://mirror.omim.org/entry/601954
• OMIM: https://mirror.omim.org/entry/604488
• OMIM: https://mirror.omim.org/entry/607487
• UniProt: http://www.uniprot.org/uniprot/O15273.html