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A subset of tumor cells in occasional cases of hepatocellular carcinoma and ovarian cancers showed strong cytoplasmic staining. A single case of cholangiocarcinoma exhibited moderate nuclear positivity. Remaining tumour tissues along with majority of stroma were negative.
GENE INFORMATION
Gene name
MYOT (HGNC Symbol)
Synonyms
LGMD1, LGMD1A, TTID
Description
Myotilin (HGNC Symbol)
Entrez gene 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]
