Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships.
Cardiac myosin-binding protein C (cMyBP-C) research has been characterized by two waves. Initial interest was piqued by its discovery in 1973 as a contaminant of myosin preparations from skeletal muscle. The second wave started in 1995 by the discovery that mutations in the gene encoding cMyBP-C cause hypertrophic cardiomyopathy (HCM). In this review, we will address what is known of cMyBP-C's role as a regulator of contraction as well as its role in HCM.
Department of Physiology, Institute for Cardiovascular Research (ICaR-VU), VU University Medical Center, van der Boechorststraat 7, 1081, BT, Amsterdam, The Netherlands.
Vasco
V
Sequeira
E Rosalie
ER
Witjas-Paalberends
Diederik W D
DW
Kuster
Jolanda
J
van der Velden
D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000503:physiopathology*; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D009200:Myocardial Contraction / Q000187:drug effects / Q000502:physiology*; D009206:Myocardium / Q000378:metabolism*; D032383:Myocytes, Cardiac / Q000502:physiology; D000099163:Myosin Binding Protein C
D002352:Carrier Proteins; D000099163:Myosin Binding Protein C