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MYOT myotilin

Gene ID: 9499, updated on 23-Nov-2023
Gene type: protein coding
Also known as: MFM3; TTID; TTOD; LGMD1; LGMD1A


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]

Associated conditions

See all available tests in GTR for this gene

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
GeneReviews: Not available
Myofibrillar myopathy 3
MedGen: C3714934OMIM: 609200GeneReviews: Not available
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Genomic context

Chromosome: 5; NC_000005.10 (137867860..137887851)
Total number of exons:


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