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MYBPC1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MYBPC1 gene

The MYBPC1 gene provides instructions for making the slow skeletal isoform of myosin binding protein C, which is essential for the stability and contraction of skeletal muscles.

Normal Function

The MYBPC1 gene provides instructions for making a version of myosin binding protein C known as the slow skeletal isoform, which is found primarily in skeletal muscles. This protein is active during the development of skeletal muscles and helps regulate the tensing of muscle fibers (muscle contraction). It interacts with other muscle proteins—including myosin, actin, and titin—within structures called sarcomeres. These proteins are essential for generating the mechanical force needed for muscles to contract, and myosin binding protein C contributes to the stability and maintenance of these sarcomeres.

Health Conditions Related to Genetic Changes

Distal arthrogryposis type 1

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 replaces the amino acid tryptophan with arginine at position 236 (Trp236Arg or W236R). While it is unclear why joint problems are typically limited to the hands and feet, researchers speculate that the contractures may be related to problems with muscle contraction that limit the movement of joints before birth.

Other Names for This Gene

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

Frequently Asked Questions

Parents often notice limited movement or stiffness in the fingers and toes shortly after birth, such as difficulty extending fingers, toes that appear bent or clubbed, or a lack of normal hand and foot flexion. These joint contractures can be observed during routine newborn examinations or early pediatric visits and may lead clinicians to order a targeted MYBPC1 gene panel.
Management focuses on physical therapy to improve joint range of motion, occupational therapy for fine‑motor skills, and, when necessary, orthopedic interventions such as splinting or surgical release of contractures. Early, consistent therapy can help maintain function and reduce the need for more invasive procedures later.
confirmed diagnosis typically requires a DNA sample (blood or saliva) sent to a genetics laboratory. The lab performs next‑generation sequencing of the MYBPC1 coding regions and may also look for the specific Trp236Arg (W236R) substitution. Results are reported as pathogenic, likely pathogenic, or variant of uncertain significance, and a genetic counselor will discuss implications with the family.
MYBPC1 mutations are inherited in an autosomal dominant pattern, meaning each child of an affected parent has a 50 % chance of inheriting the mutation. Prenatal testing (chorionic villus sampling or amniocentesis) or pre‑implantation genetic diagnosis can identify the mutation early, allowing families to make informed reproductive choices.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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