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 ( …

Feb 8, 2025 · Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities. A founder mutation …

Dec 24, 2024 · COQ7 (Coenzyme Q7, Hydroxylase) is a Protein Coding gene. Diseases associated with COQ7 include Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 …

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

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 …

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 …

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 …

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 …

Primary ubiquinone (co‐enzyme Q) deficiency results in a wide range of clinical features due to mitochondrial dysfunction. Here, we analyse and characterize two mutations in the ubiquinone …

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 …