Humpath.com - Human pathology

Home > A. Molecular pathology > CABC1

CABC1

Thursday 20 March 2008

Coenzyme Q(10) (CoQ(10)) plays a pivotal role in oxidative phosphorylation (OXPHOS) in that it distributes electrons between the various dehydrogenases and the cytochrome segments of the respiratory chain.

Primary coenzyme Q(10) deficiency represents a clinically heterogeneous condition suggestive of genetic heterogeneity, and several disease genes have been previously identified.

The CABC1 gene, also called COQ8 or ADCK3, is the human homolog of the yeast ABC1/COQ8 gene, one of the numerous genes involved in the ubiquinone biosynthesis pathway.

The exact function of the Abc1/Coq8 protein is as yet unknown, but this protein is classified as a putative protein kinase.

Pathology

- CABC1 germline mutations in ubiquinone deficiency with cerebellar ataxia and seizures (18319072)

References

- Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30. PMID: 18319072