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MYBPC1
myosin binding protein C1
The MYBPC1 gene provides instructions for myosin binding protein C, a crucial component found primarily in skeletal muscles, playing a key role in muscle contraction and development. MYBPC1 encodes the slow skeletal isoform of myosin binding protein C, a protein vital for regulating muscle fibre tension and maintaining the structural integrity of sarcomeres, which are the basic contractile units of muscle.
MYBPC1 is located on the long (q) arm of chromosome 12, at band 12q23.2. Arm ratio per GRCh38 - banding schematic.
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Overview
The MYBPC1 gene, also known as myosin binding protein C1, provides instructions for producing a specific isoform of myosin binding protein C. This protein is predominantly found within skeletal muscles, which are responsible for voluntary movement. It is essential for the proper development and function of these muscles, contributing to the regulation of muscle contraction and the structural stability of muscle fibres.
What the gene does
The protein encoded by MYBPC1 is known as the slow skeletal isoform of myosin binding protein C. It is active during the formation and maturation of skeletal muscles, playing a significant role in regulating the tension of muscle fibres, a process vital for muscle contraction. This protein interacts with several other critical muscle proteins, including myosin, actin, and titin, all of which are integral components of sarcomeres. Sarcomeres are specialised structures within muscle cells that generate the mechanical force required for muscle movement. Research suggests that the MYBPC1 protein helps maintain the stability and structural integrity of these sarcomeres, ensuring efficient muscle function.
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Chromosome location
The MYBPC1 gene is situated on the long arm of chromosome 12, specifically at position 12q23.2. This genomic location specifies where the gene can be found within the human genome, influencing its inheritance patterns and potential genetic associations.
Protein structure
The MYBPC1 protein has a length of 1141 amino acids and features a complex domain architecture. It begins with a Disordered region (amino acids 1-51). Following this are several Ig-like C2-type domains: Ig-like C2-type 1 (amino acids 72-144), Ig-like C2-type 2 (amino acids 251-340), Ig-like C2-type 3 (amino acids 341-431), Ig-like C2-type 4 (amino acids 432-520), Ig-like C2-type 5 (amino acids 522-619), and Ig-like C2-type 6 (amino acids 837-931), and Ig-like C2-type 7 (amino acids 1047-1141). Additionally, the protein contains three Fibronectin type-III domains: Fibronectin type-III 1 (amino acids 622-721), Fibronectin type-III 2 (amino acids 722-833), and Fibronectin type-III 3 (amino acids 934-1029).
Key variants
Genetic variations within the MYBPC1 gene can impact the structure and function of the myosin binding protein C. These variations, which include changes in the DNA sequence, can lead to altered protein activity or stability. The clinical significance of a specific variant often depends on its location within the gene and how it affects protein function.
Sample of pathogenic variants
7 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.742G>A | p.Glu248Lys | Pathogenic/Likely pathogenic | ★★☆☆ | Myopathy, congenital, with tremor |
c.776T>C | p.Leu259Pro | Pathogenic/Likely pathogenic | ★★☆☆ | Myopathy, congenital, with tremor |
c.788T>G | p.Leu263Arg | Pathogenic | ★★☆☆ | Myopathy, congenital, with tremor |
c.788T>C | p.Leu263Pro | Pathogenic | ★☆☆☆ | not provided |
c.2566T>C | p.Tyr856His | Pathogenic | - | Arthrogryposis, distal, type 1B |
c.706T>C | p.Trp236Arg | Pathogenic | - | Arthrogryposis, distal, type 1B |
c.739T>C | p.Tyr247His | Pathogenic | - | Myopathy, congenital, with tremor |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variations in the MYBPC1 gene are associated with certain inherited conditions, primarily those affecting skeletal muscle development and function. Distal arthrogryposis type 1 is linked to MYBPC1 variations. This condition follows an autosomal recessive inheritance pattern and involves joint deformities, particularly in the hands and feet. At least one specific change in a protein building block of the slow isoform of myosin binding protein C has been identified as a cause of distal arthrogryposis type 1.
No disease links recorded for this gene in our reference set.
Inheritance pattern
Conditions caused by pathogenic MYBPC1 variants typically follow autosomal recessive inheritance.
When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.
UK clinical status
MYBPC1 is recognised within the NHS Genomic Medicine Service, indicating its clinical relevance in the UK. The gene is listed on PanelApp for several conditions, including Arthrogryposis (R83), Congenital myopathy (R81), and Foetal anomalies (R21). It is also included in the DDG2P (Developmental Disorders Genotype-Phenotype Database) gene list, highlighting its association with developmental disorders.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Diet & lifestyle considerations
Currently, there is no conclusive evidence to suggest that specific lifestyle modifications can prevent or cure conditions associated with MYBPC1 gene variants. General recommendations for muscle health, such as regular physical activity and a balanced diet, are broadly beneficial but should be discussed with a healthcare professional.
Supplement considerations
There is no scientific evidence to support the use of specific supplements for preventing or treating conditions linked to MYBPC1 gene variants. Individuals considering supplements should consult a healthcare provider for personalised advice.
Frequently asked questions
What is the main function of the MYBPC1 gene?
The MYBPC1 gene provides instructions for the myosin binding protein C, which is primarily found in skeletal muscles. This protein is crucial for regulating muscle fibre tension, muscle contraction, and maintaining the structural integrity of sarcomeres.
What conditions are associated with MYBPC1 gene variations?
Variations in the MYBPC1 gene are linked to inherited muscle conditions such as distal arthrogryposis type 1. This condition is characterised by joint contractures, particularly in the hands and feet.
How is MYBPC1 inherited?
MYBPC1-related conditions, such as distal arthrogryposis type 1, follow an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of a pathogenic variant (one from each parent) to develop the condition.
References
- Gurnett CA, Desruisseau DM, McCall K. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Human molecular genetics. 2010. PMID: 20045868
- Ackermann MA, Kontrogianni-Konstantopoulos A. Myosin binding protein-C slow: an intricate subfamily of proteins. Journal of biomedicine & biotechnology. 2010. PMID: 20396395
- Weber FE, Vaughan KT, Reinach FC. Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. European journal of biochemistry. 1993. PMID: 8375400