{"symbol":"MYBPC1","synonyms":["MYBPCC","LCCS4","MYBPCS"],"name":"myosin binding protein C, slow type","description":"This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]","ncbiEntrezGeneId":4604,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4604","proteins":[{"symbol":"MYPC1_HUMAN","href":"/api/1.0/protein/MYPC1_HUMAN"}],"hgncRootFamilies":[{"name":"Immunoglobulin superfamily domain containing","href":"/api/1.0/gene_family/Immunoglobulin+superfamily+domain+containing"},{"name":"Fibronectin type III domain containing","href":"/api/1.0/gene_family/Fibronectin+type+III+domain+containing"}]}