Entity Details

Primary name ATP6
Entity type gene
Source Source Link

Details

PrimaryID4508
RefseqGene
SymbolATP6
Namemitochondrially encoded ATP synthase 6
Chromosome
Location
TaxID9606
Statuslive
SourceGenomemitochondrion
SourceOrigin
CreationDate2003-08-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsATP6_HUMAN

GO terms

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GOName
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0006754 ATP biosynthetic process
GO:0007568 aging
GO:0015078 proton transmembrane transporter activity
GO:0015986 ATP synthesis coupled proton transport
GO:0016021 integral component of membrane
GO:0042407 cristae formation
GO:0042776 mitochondrial ATP synthesis coupled proton transport
GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o)
GO:0055093 response to hyperoxia

Diseases

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Disease IDSourceNameDescription
256000 OMIMLeigh 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. The disease is caused by variants affecting the gene represented in this entry.
500003 OMIMMitochondrial infantile bilateral striatal necrosis (MIBSN)Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome. The disease is caused by variants affecting the gene represented in this entry.
500010 OMIMAtaxia and polyneuropathy, adult-onset (APAO)A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria. The disease is caused by variants affecting the gene represented in this entry.
500011 OMIMMyopathy, 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. The disease is caused by variants affecting the gene represented in this entry.
551500 OMIMNeuropathy, 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. The disease is caused by variants affecting the gene represented in this entry.
500006 OMIMCardiomyopathy, 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. The disease is caused by variants affecting the gene represented in this entry.
500015 OMIMMitochondrial 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. The disease is caused by variants affecting the gene represented in this entry.
535000 OMIMLeber hereditary optic neuropathy (LHON)A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry.