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MYBPC1

MYBPC1

Reviewed January 2011

What is the official name of the MYBPC1 gene?

The official name of this gene is “myosin binding protein C, slow type.”

MYBPC1 is the gene's official symbol. The MYBPC1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MYBPC1 gene?

The 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.

Does the MYBPC1 gene share characteristics with other genes?

The MYBPC1 gene belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing). It also belongs to a family of genes called immunoglobulin superfamily, I-set domain containing (immunoglobulin superfamily, I-set domain containing). It also belongs to a family of genes called MYBP (myosin binding proteins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the MYBPC1 gene related to health conditions?

distal arthrogryposis type 1 - caused by mutations in the MYBPC1 gene

At least one mutation in the MYBPC1 gene has been found to cause distal arthrogryposis type 1, a disorder characterized by joint deformities (contractures) in the hands and feet. The mutation changes a single protein building block (amino acid) in the slow isoform of myosin binding protein C. Specifically, the mutation replaces the amino acid tryptophan with the amino acid arginine at protein position 236 (written as Trp236Arg or W236R). It is unclear how the defective protein leads to contractures in people with distal arthrogryposis type 1, or why the joint problems are typically limited to the hands and feet. However, researchers speculate that contractures may be related to problems with muscle contraction that limit the movement of joints before birth.

Where is the MYBPC1 gene located?

Cytogenetic Location: 12q23.2

Molecular Location on chromosome 12: base pairs 101,594,930 to 101,685,879

The MYBPC1 gene is located on the long (q) arm of chromosome 12 at position 23.2.

The MYBPC1 gene is located on the long (q) arm of chromosome 12 at position 23.2.

More precisely, the MYBPC1 gene is located from base pair 101,594,930 to base pair 101,685,879 on chromosome 12.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MYBPC1?

You and your healthcare professional may find the following resources about MYBPC1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MYBPC1 gene or gene products?

  • C-protein, skeletal muscle slow isoform
  • MYBPCC
  • MYBPCS
  • MYPC1_HUMAN
  • skeletal muscle C-protein
  • slow MyBP-C

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MYBPC1?

actin ; amino acid ; arginine ; arthrogryposis ; cardiac ; cell ; contraction ; distal ; gene ; joint ; muscle cell ; mutation ; myosin ; myosin ATPase ; protein ; skeletal muscle ; tryptophan

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (4 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: January 2011
Published: December 16, 2014