FASTKD3

FASTKD3 is a gene that in humans encodes the FAST kinase domain-containing protein 3. This protein is a member of the FAST kinase domain-containing protein family and is known to play a crucial role in mitochondrial RNA processing.

Function

The FASTKD3 protein is a mitochondrial protein that is involved in the processing of mitochondrial RNAs (mtRNAs). It is essential for the generation of mature mtRNAs and for mitochondrial translation. Mutations in the FASTKD3 gene can lead to mitochondrial diseases, such as mitochondrial myopathy and mitochondrial encephalomyopathy.

Structure

The FASTKD3 gene is located on the long (q) arm of chromosome 6 at position 21. The protein encoded by this gene contains a Fas-activated serine/threonine (FAST) kinase domain, which is a key component in the regulation of the apoptosis pathway.

Clinical significance

Mutations in the FASTKD3 gene have been associated with mitochondrial diseases. These diseases are characterized by defects in mitochondrial function, which can affect a variety of organs and tissues, including the brain, heart, muscles, and nervous system. Symptoms can range from mild to severe and can include muscle weakness, neurological problems, and organ failure.

Research

Research into the FASTKD3 gene and its associated protein is ongoing. Understanding the function and structure of this gene and protein could lead to new treatments for mitochondrial diseases.

See also

• FAST kinase domain-containing protein
• Mitochondrial disease
• Mitochondrial myopathy
• Mitochondrial encephalomyopathy

References

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