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  Domain Name: Calsarcin
Calcineurin-binding protein (Calsarcin). This family consists of several mammalian calcineurin-binding proteins. The calcium- and calmodulin-dependent protein phosphatase calcineurin has been implicated in the transduction of signals that control the hypertrophy of cardiac muscle and slow fibre gene expression in skeletal muscle. Calsarcin-1 and calsarcin-2 are expressed in developing cardiac and skeletal muscle during embryogenesis, but calsarcin-1 is expressed specifically in adult cardiac and slow-twitch skeletal muscle, whereas calsarcin-2 is restricted to fast skeletal muscle. Calsarcins represent a novel family of sarcomeric proteins that link calcineurin with the contractile apparatus, thereby potentially coupling muscle activity to calcineurin activation. Calsarcin-3, is expressed specifically in skeletal muscle and is enriched in fast-twitch muscle fibres. Like calsarcin-1 and calsarcin-2, calsarcin-3 interacts with calcineurin, and the Z-disc proteins alpha-actinin, gamma-filamin, and telethonin.
No pairwise interactions found for the domain Calsarcin

Total Mutations Found: 4
Total Disease Mutations Found: 3
This domain occurred 3 times on human genes (3 proteins).



  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 16 (CMH16)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16


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   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Calsarcin














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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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