COQ8A Antibody

1. Loss of COQ8a results in cerebellar ataxia and coenzyme Q deficiency. PMID: 27499294
2. ADCK3/COQ8 localises to mitochondrial cristae and is targeted to this organelle via the presence of an N-terminal localisation signal PMID: 26866375
3. work reveals Mg(2+)-dependent ATPase activity of ADCK3, providing strong support for the theoretical prediction of this protein being a functional atypical kinase. PMID: 25540914
4. a structural foundation for investigating the role of transmembrane association in regulating the biological activity of ADCK3 PMID: 25216398
5. Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. PMID: 25498144
6. These observations highlight the importance of screening for a potentially treatable cause, CABC1/ADCK3 mutations PMID: 22036850
7. play an important role in mediating p53-inducible apoptosis through the mitochondrial pathway. PMID: 11888884
8. CABC1 gene mutations in four ubiquinone-deficient patients in three distinct families were reported. PMID: 18319072
9. Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ10 deficiency in muscle. PMID: 18319074

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HGNC: 16812

OMIM: 606980

KEGG: hsa:56997

STRING: 9606.ENSP00000355739

UniGene: Hs.118241