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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MYOT-20-RE | 20 (40 μL) | 200 μL |  |
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| MYOT-20-OR | 20 (40 μL) | 200 μL |  |
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| MYOT-20-GO | 20 (40 μL) | 200 μL |  |
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| MYOT-20-GR | 20 (40 μL) | 200 μL |  |
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| MYOT-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : MYOT
Gene Name : Myotilin
Chromosome : CHR 5: 137,867,281-137,887,850
Locus : 5q31.2
Alt. Genes : SGK2
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