myosin binding protein C1
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A MYBPC1 gene provides instructions for making one version of a protein called myosin binding protein C. Several versions of myosin binding protein C are produced from different genes; these proteins are found in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. The version produced from the MYBPC1 gene, which is known as the slow skeletal isoform, is found primarily in skeletal muscles.
Normal function
A MYBPC1 gene provides instructions for making one version of a protein called myosin binding protein C. Several versions of myosin binding protein C are produced from different genes; these proteins are found in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. The version produced from the MYBPC1 gene, which is known as the slow skeletal isoform, is found primarily in skeletal muscles.
The slow isoform of myosin binding protein C is active during the development of skeletal muscles. Researchers believe that this protein helps regulate the tensing of muscle fibers (muscle contraction). Myosin binding protein C interacts with other muscle proteins, including myosin, actin, and titin. These proteins play essential roles in muscle cell structures called sarcomeres, which generate the mechanical force needed for muscles to contract. Studies suggest that myosin binding protein C contributes to the stability and maintenance of sarcomeres.
Conditions referring to this gene or chromosome
Other names
C-protein, skeletal muscle slow isoform
MYBPCC
MYBPCS
MYPC1_HUMAN
skeletal muscle C-protein
slow MyBP-C
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Leitura adicional e referências
- myosin binding protein C1; MedlinePlus, National Library of Medicine.
- Ackermann MA, Kontrogianni-Konstantopoulos A. Myosin binding protein-C slow: an intricate subfamily of proteins. J Biomed Biotechnol. 2010;2010:652065. doi: 10.1155/2010/652065. Epub 2010 Apr 8.
- Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.
- Weber FE, Vaughan KT, Reinach FC, Fischman DA. Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. Eur J Biochem. 1993 Sep 1;216(2):661-9. doi: 10.1111/j.1432-1033.1993.tb18186.x.
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