This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MYBPC1-20-RE | 20 (40 μL) | 200 μL |  |
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| MYBPC1-20-OR | 20 (40 μL) | 200 μL |  |
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| MYBPC1-20-GO | 20 (40 μL) | 200 μL |  |
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| MYBPC1-20-GR | 20 (40 μL) | 200 μL |  |
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| MYBPC1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Symbol : MYBPC1
Gene Name : Myosin binding protein C, slow type
Chromosome : CHR 12: 101,594,848-101,695,840
Locus : 12q23.2
Alt. Genes : HIPK3
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