Gene CKM
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Also known as
CKMM, CPK-M, M-CKOverview
CKM (Creatine Kinase, Muscle) is a gene that codes for an enzyme called creatine kinase that is primarily expressed in skeletal muscle tissue. The enzyme catalyzes the transfer of a phosphate group from ATP to creatine, forming phosphocreatine, which can then be used as a readily available source of energy for muscle contraction.
The CKM gene is located on chromosome 19 in humans and contains 7 exons. There are two main isoforms of the CKM enzyme that are encoded by alternative splicing of the CKM gene - the muscle-specific form (M-CK) and the brain-specific form (B-CK).
Mutations or alterations in the CKM gene have been linked to various muscular disorders, including myopathies and muscular dystrophies. Additionally, changes in CKM expression or activity have been associated with exercise intolerance, fatigue, and muscle damage.
Overall, the CKM gene plays a critical role in energy metabolism in skeletal muscle tissue, and its study has potential implications for understanding and treating various muscular disorders and conditions.