Mitochondrial 5-demethoxyubiquinone hydroxylase (DMQ hydroxylase), also known as coenzyme Q7, hydroxylase, is an enzyme that in humans is encoded by the COQ7 gene. The clk-1 ( clock-1 ) gene encodes this protein that is necessary for ubiquinone biosynthesis in the worm Caenorhabditis elegans and other eukaryotes .

Feb 8, 2025 · Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities. A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.

Our work reveals that one such protein, COQ9, is a lipid-binding protein that enables CoQ biosynthesis through its physical and functional interaction with COQ7, and via its stabilization of the entire CoQ biosynthetic complex.

May 3, 2024 · Here, we report novel compound heterozygous variants in the COQ7 gene responsible for a prenatal onset (20 weeks of gestation) of hypertrophic cardiomyopathy and intestinal dysmotility in a...

Nov 17, 2022 · Here, we present structure-function analyses of a lipid-, substrate-, and NADH-bound complex comprising two complex Q subunits: the hydroxylase COQ7 and the lipid-binding protein COQ9. We reveal that COQ7 adopts a ferritin-like fold with a hydrophobic channel whose substrate-binding capacity is enhanced by COQ9.

Jan 4, 2025 · COQ7 defect causes prenatal onset of mitochondrial CoQ(10) deficiency with cardiomyopathy and gastrointestinal obstruction.

Mar 28, 2025 · COQ7 (Coenzyme Q7, Hydroxylase) is a Protein Coding gene. Diseases associated with COQ7 include Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 and Coenzyme Q10 Deficiency, Primary, 8 .

May 11, 2015 · Whitmarsh and colleagues identify a nuclear form of the mitochondrial enzyme, CLK-1 in C. elegans and COQ7 in human cells, respectively, that senses reactive oxygen species and regulates gene ...

Jan 3, 2024 · In animals, biosynthesis of coenzyme Q is currently attributed to ten different proteins, with COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 forming the iconic COQ metabolon. Yet several reaction steps...

COQ7 is a conserved enzyme of the ubiquinone synthesis pathway, which contains a cleavable presequence that targets it to the matrix [201]. It is conserved between nematodes and mammals, and it has been implicated in the control of the lifespan in these two groups [202,203] .