CKM (gene)

CKM (gene)

The CKM gene, also known as Creatine Kinase, M-Type, is a gene that is located on the 19th chromosome in humans. This gene encodes a muscle form of creatine kinase, an enzyme that plays a crucial role in energy metabolism in muscle cells.

Function

The creatine kinase enzyme catalyzes the reversible transfer of phosphate from phosphocreatine to ADP to generate ATP. The CKM gene specifically encodes the M-type creatine kinase, which is predominantly expressed in skeletal muscle and cardiac muscle cells. This enzyme is crucial for the rapid buffering and transport of cellular energy, which is vital for muscle contraction.

Clinical Significance

Alterations in the CKM gene have been associated with various medical conditions. Elevated levels of the enzyme in the blood can be indicative of muscle damage, such as that caused by myocardial infarction or muscular dystrophy. Additionally, certain polymorphisms in the CKM gene have been linked to differences in muscle performance and endurance.

Genetic Location

The CKM gene is located on the long (q) arm of chromosome 19 at position 13.2. More precisely, the CKM gene is situated from base pair 47,118,138 to base pair 47,120,478 on chromosome 19.

See Also

• Creatine kinase
• Muscular dystrophy
• Myocardial infarction
• Chromosome 19

References

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