COQ7
Function
Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis (PubMed:28409910). Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides (By similarity). Involved in lifespan determination in a ubiquinone-independent manner (By similarity). Plays a role in modulating mitochondrial stress responses, acting in the nucleus, perhaps via regulating gene expression, independent of its characterized mitochondrial function in ubiquinone biosynthesis (PubMed:25961505).
Involvement in disease
Coenzyme Q10 deficiency, primary, 8
COQ10D8
An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Neuronopathy, distal hereditary motor, autosomal recessive 9
HMNR9
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMNR9 is a slowly progressive form characterized by juvenile onset of distal muscle weakness and atrophy particularly affecting the lower limbs, although most patients also have upper limb involvement. Additional features include pes cavus, foot drop, and inability to walk on the heels or tiptoes. Some patients may have mild sensory abnormalities or pyramidal signs.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor biosynthesis; ubiquinone biosynthesis.
Sequence Similarities
Belongs to the COQ7 family.
Tissue Specificity
Expressed dominantly in heart and skeletal muscle.
Cellular localization
- Mitochondrion inner membrane
- Peripheral membrane protein
- Matrix side
- Mitochondrion
- Nucleus
- Chromosome
Alternative names
DMQ hydroxylase, Timing protein clk-1 homolog, Ubiquinone biosynthesis monooxygenase COQ7, COQ7