{"symbol":"MYOT","synonyms":["LGMD1A","TTOD","TTID","LGMD1","MFM3"],"name":"myotilin","description":"This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]","ncbiEntrezGeneId":9499,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9499","proteins":[{"symbol":"MYOTI_HUMAN","href":"/api/1.0/protein/MYOTI_HUMAN"}],"hgncRootFamilies":[{"name":"Immunoglobulin superfamily domain containing","href":"/api/1.0/gene_family/Immunoglobulin+superfamily+domain+containing"}]}