CKMT1A

CKMT1A is a gene that encodes the mitochondrial creatine kinase 1A protein in humans. This protein plays a crucial role in energy transduction in tissues with high energy demands, such as the brain and skeletal muscle.

Function

The protein encoded by the CKMT1A gene is a member of the creatine kinase family of proteins. Creatine kinases are enzymes that catalyze the reversible transfer of a phosphate group from phosphocreatine to ADP, producing ATP. This reaction is an important part of the process by which cells generate and store energy.

The CKMT1A protein is located in the mitochondria, the energy-producing organelles within cells. It is specifically found in the inner mitochondrial membrane, where it plays a key role in providing ATP for mitochondrial processes.

Clinical Significance

Mutations in the CKMT1A gene have been associated with certain genetic disorders. For example, a rare condition known as mitochondrial creatine kinase deficiency is caused by mutations in this gene. This disorder is characterized by muscle weakness, fatigue, and other symptoms related to impaired energy metabolism.

See Also

• Creatine kinase
• Mitochondria
• Phosphocreatine
• Adenosine diphosphate
• Adenosine triphosphate