This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010].
Szklarczyk, Wanschers, Nijtmans, Rodenburg, Zschocke, Dikow, van den Brand, Hendriks-Franssen, Gilissen, Veltman, Nooteboom, Koopman, Willems, Smeitink, Huynen, van den Heuvel: "A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia." in: Human molecular genetics, Vol. 22, Issue 4, pp. 656-67, (2013) (PubMed).
Aliases for TACO1 抗体
translational activator of cytochrome c oxidase I (TACO1) 抗体 translational activator of mitochondrially encoded cytochrome c oxidase I (TACO1) 抗体 coiled-coil domain containing 44 (Ccdc44) 抗体 translational activator of mitochondrially encoded cytochrome c oxidase I (Taco1) 抗体 translational activator of cytochrome c oxidase I (Taco1) 抗体 2310066I18Rik 抗体 CCDC44 抗体 Ccdc44 抗体 RGD1306784 抗体