Ontology highlight
ABSTRACT:
SUBMITTER: Vazquez Fonseca L
PROVIDER: S-EPMC5838795 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Vazquez Fonseca Luis L Doimo Mara M Calderan Cristina C Desbats Maria Andrea MA Acosta Manuel J MJ Cerqua Cristina C Cassina Matteo M Ashraf Shazia S Hildebrandt Friedhelm F Sartori Geppo G Navas Placido P Trevisson Eva E Salviati Leonardo L
Human mutation 20171218 3
Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralog genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). We have found that COQ8B is a mitochondrial matrix protein peripherally associated with the inner membrane. COQ8B can complement a ΔCOQ8 yeast strain when its mitochondrial targeting sequence (MTS) is r ...[more]