Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.
Neuropathy, ataxia, and retinitis pigmentosa
NARP
A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Leber hereditary optic neuropathy
LHON
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
None
The disease is caused by variants affecting the gene represented in this entry.
Leigh syndrome
LS
An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
None
The disease is caused by variants affecting the gene represented in this entry.
Mitochondrial infantile bilateral striatal necrosis
MIBSN
Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Mitochondrial complex V deficiency, mitochondrial 1
MC5DM1
A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course.
None
The disease is caused by variants affecting the gene represented in this entry.
Myopathy, lactic acidosis, and sideroblastic anemia 3
MLASA3
A rare mitochondrial disorder characterized by sideroblastic anemia, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. Additional MLASA3 features are failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay.
None
The disease is caused by variants affecting the gene represented in this entry.
Ataxia and polyneuropathy, adult-onset
APAO
A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria.
None
The disease is caused by variants affecting the gene represented in this entry.
Cardiomyopathy, infantile hypertrophic
CMHI
An infantile form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the ATPase A chain family.
ATP6, ATPASE6, MTATP6, MT-ATP6, ATP synthase subunit a, F-ATPase protein 6
Proteins
Metabolism
24817Da
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