MYOT, Official Symbol MYOTprovided by HGNC Official Full Name myotilinprovided by HGNC Primary source HGNC:HGNC:12399 See related Ensembl:ENSG00000120729 MIM:604103; AllianceGenome:HGNC:12399 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MFM3; TTID; TTOD; LGMD1; LGMD1A Summary 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] Expression Biased expression in prostate (RPKM 16.8), esophagus (RPKM 14.9) and 4 other tissues See more Orthologs mouse all