AK3
AK3 or Adenylate Kinase 3 is an enzyme that is encoded by the AK3 gene in humans. This enzyme is part of the adenylate kinase family, which is involved in regulating the homeostasis of cellular adenine nucleotides.
Function[edit | edit source]
Adenylate kinases are involved in regulating the levels of adenine nucleotides present within the cell. AK3, specifically, is located in the mitochondria and plays a crucial role in energy metabolism. It catalyzes the reversible transfer of the terminal phosphate group between adenosine triphosphate (ATP) and adenosine monophosphate (AMP).
Clinical Significance[edit | edit source]
Mutations in the AK3 gene have been associated with progressive leukoencephalopathy, a rare neurological disorder characterized by a progressive loss of mental and movement abilities. Further research is needed to fully understand the role of AK3 in this and other diseases.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
