Structural highlights
Disease
[ADCK3_HUMAN] Autosomal recessive ataxia due to ubiquinone deficiency. The disease is caused by mutations affecting the gene represented in this entry.
Function
[ADCK3_HUMAN] Putative protein kinase involved in the biosynthesis of coenzyme Q since it is able to rescue partially coenzyme Q6 biosynthesis of yeast COQ8 mutants. May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain.[1]
References
- ↑ Xie LX, Hsieh EJ, Watanabe S, Allan CM, Chen JY, Tran UC, Clarke CF. Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants. Biochim Biophys Acta. 2011 May;1811(5):348-60. doi: 10.1016/j.bbalip.2011.01.009., Epub 2011 Feb 4. PMID:21296186 doi:http://dx.doi.org/10.1016/j.bbalip.2011.01.009
