CKMT1B

Protein CKMT1B PDB 1qk1

CKMT1B

CKMT1B is a gene that encodes for the mitochondrial creatine kinase isoenzyme. This enzyme plays a crucial role in energy metabolism by facilitating the transfer of high-energy phosphate groups between ATP and creatine. The CKMT1B gene is located on chromosome 15 in humans.

Function

The CKMT1B enzyme is primarily expressed in tissues with high energy demands, such as skeletal muscle and brain tissue. It catalyzes the reversible transfer of a phosphate group between ATP and creatine, generating phosphocreatine, which serves as a rapidly mobilizable reserve of high-energy phosphate bonds.

Clinical Significance

Mutations in the CKMT1B gene have been associated with various neuromuscular disorders and metabolic diseases. Disruption of the creatine kinase system can lead to impaired energy production and muscle function, resulting in conditions such as mitochondrial myopathy and exercise intolerance.

Regulation

The expression of the CKMT1B gene is tightly regulated at the transcriptional and post-transcriptional levels. Various factors, including hormones, metabolic signals, and cellular stress, can influence the activity of the CKMT1B enzyme.

Interactions

CKMT1B interacts with other proteins involved in energy metabolism, such as mitochondrial ATP synthase and adenylate kinase. These interactions are essential for coordinating energy production and utilization within the cell.

References

1. Smith AC, Robinson AJ. MitoMiner v4.0: an updated database of mitochondrial localization evidence, phenotypes and diseases. Nucleic Acids Res. 2019 Jan 8;47(D1):D1225-D1228. doi: 10.1093/nar/gky1066. PMID: 30496460; PMCID: PMC6323943.