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Gene Review

MYBPH  -  myosin binding protein H

Homo sapiens

Synonyms: H-protein, MyBP-H, Myosin-binding protein H
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Disease relevance of MYBPH

  • Myosin-binding protein H was 24.7 times underexpressed in patients with prolapse (normalized signal intensity [NSI]: 0.46 [0.2-0.6]) compared with controls (NSI: 11.4 [0.2-31.3]) [1].

High impact information on MYBPH


Biological context of MYBPH


Anatomical context of MYBPH

  • The myosin filaments of striated muscle contain a family of enigmatic myosin-binding proteins (MyBP), MyBP-C and MyBP-H [8].
  • Mutant and ectopic expression analyses in Drosophila suggest that the HH protein diffuses from the signaling cells to promote the proliferation of nearby ovarian somatic stem cells by antagonizing the suppression of its receptor PTC towards the CI transcription factor in the stem cells [9].

Associations of MYBPH with chemical compounds

  • Some of these proteins, including MyBP-H and MyBP-C, are characterized by a series of internal repeats (motifs) with homology to either the C2-set of the immunoglobulin superfamily or the fibronectin type III repeat [10].
  • Over 83% of the cases of HH result from a single mutation of a Cys to Tyr in the HH protein [11].

Other interactions of MYBPH

  • The relationship between myosin binding proteins (MyBPs) C and H is confirmed, and MyBP-H is proposed to have given rise to MyBP-C by the acquisition of some titin domains [12].


  1. Differential gene expression in pubococcygeus muscle from patients with pelvic organ prolapse. Visco, A.G., Yuan, L. Am. J. Obstet. Gynecol. (2003) [Pubmed]
  2. The major myosin-binding domain of skeletal muscle MyBP-C (C protein) resides in the COOH-terminal, immunoglobulin C2 motif. Okagaki, T., Weber, F.E., Fischman, D.A., Vaughan, K.T., Mikawa, T., Reinach, F.C. J. Cell Biol. (1993) [Pubmed]
  3. A dinucleotide repeat polymorphism in the MYBPH gene. Watkins, H., MacRae, C.A., Fischman, D.A., Seidman, J.G., Seidman, C.E. Hum. Mol. Genet. (1994) [Pubmed]
  4. The sonic hedgehog receptor patched associates with caveolin-1 in cholesterol-rich microdomains of the plasma membrane. Karpen, H.E., Bukowski, J.T., Hughes, T., Gratton, J.P., Sessa, W.C., Gailani, M.R. J. Biol. Chem. (2001) [Pubmed]
  5. Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain. Alyonycheva, T.N., Mikawa, T., Reinach, F.C., Fischman, D.A. J. Biol. Chem. (1997) [Pubmed]
  6. The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. Welikson, R.E., Fischman, D.A. J. Cell. Sci. (2002) [Pubmed]
  7. Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse. Hundley, A.F., Yuan, L., Visco, A.G. Am. J. Obstet. Gynecol. (2006) [Pubmed]
  8. Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. Gruen, M., Gautel, M. J. Mol. Biol. (1999) [Pubmed]
  9. The role of the hedgehog/patched signaling pathway in epithelial stem cell proliferation: from fly to human. Parisi, M.J., Lin, H. Cell Res. (1998) [Pubmed]
  10. Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization. Vaughan, K.T., Weber, F.E., Ried, T., Ward, D.C., Reinach, F.C., Fischman, D.A. Genomics (1993) [Pubmed]
  11. Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis. Enns, C.A. Biol. Res. (2006) [Pubmed]
  12. Molecular evolution of immunoglobulin and fibronectin domains in titin and related muscle proteins. Kenny, P.A., Liston, E.M., Higgins, D.G. Gene (1999) [Pubmed]
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