myosin-binding protein C, cardiac-type; cardiac MyBP-C; C-protein, cardiac muscle isoform (MYBPC3)

Function

• thick filament-associated protein located in the crossbridge region of vertebrate striated muscle A-bands
• in vitro, MYBPC3 binds MHC, F-actin & native thin filaments, & modifies the activity of actin-activated myosin ATPase
• MYBPC3 may modulate muscle contraction or may play a more structural role
• substrate for phosphorylation by PKA & PKC
• reversible phosphorylation appears to modulate contraction (putative)

Structure

• belongs to the immunoglobulin superfamily, MyBP family
• contains 3 fibronectin F3 modules
• contains 7 Ig-like C2-type domains

Pathology

• defects in MYBPC3 are the cause of familial hypertrophic cardiomyopathy type 4

Laboratory

• MYBPC3 gene mutation

Notes

• MYBPC3 gene mutation successfully repaired in human embryos using CRISPR technology

More general terms

• immunoglobulin superfamily protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4607
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4607
• OMIM: https://mirror.omim.org/entry/115197
• OMIM: https://mirror.omim.org/entry/600958
• UniProt: http://www.uniprot.org/uniprot/Q14896.html