Atypical Kinase COQ8A, Mitochondrial (ADCK3) Antibody

Background

aarF domain-containing kinase 3 (ADCK3), also known as COQ8A, is a mitochondrial protein essential for coenzyme Q biosynthesis. It functions as a lipid kinase-like protein that stabilizes and regulates the synthesis of CoQ, which is crucial for electron transport and ATP production in mitochondria. Mutations in ADCK3 are linked to CoQ10 deficiency, which can result in a range of mitochondrial disorders, including cerebellar ataxia, seizures, and neuromuscular dysfunction. ADCK3 is highly expressed in energy-demanding tissues, including the brain and muscles, emphasizing its role in maintaining mitochondrial function and energy homeostasis. Therapeutic strategies for addressing ADCK3-related dysfunctions include CoQ10 supplementation and gene-targeted therapies, which aim to restore mitochondrial energy metabolism and reduce disease symptoms.