MT-ATP6 - mitochondrially encoded ATP synthase 6 Gene

Also Known as ATPase6; MTATP6; ATP6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4508

Summary

Contributes to proton-transporting ATP Synthase activity, rotational mechanism. Involved in mitochondrial ATP synthesis coupled proton transport. Part of mitochondrial proton-transporting ATP Synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Apr 2022]

MT-ATP6 Products (1)

mRNA	Protein	Name
YP_003024031.1 ATP synthase F0 subunit 6 (mitochondrion) [Homo sapiens]

MT-ATP6 Protein Structure

ATP-synt_A

0
100
200
226 a.a.

Protein Preferred Names	Protein Names
ATP synthase F0 subunit 6

MT-ATP6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810899	ATP6 Antibody	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Neuropathy, Ataxia, And Retinitis Pigmentosa	Narp Syndrome NARP Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome Neuropathy, Ataxia And Retinitis Pigmentosa Neuropathy Ataxia Retinitis Pigmentosa Syndrome Neuropathy, Ataxia, And Retinitis Pigmentos Neuropathy Ataxia And Retinitis Pigmentosa Neuropathy, Ataxia, Retinitis Pigmentosa Neuropathy Ataxia And Retinis Pigmentosa Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Maternally-Inherited Spastic Paraplegia Maternally-Inherited Spg
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3	MLASA3
Ataxia And Polyneuropathy, Adult-Onset	Adult-Onset Ataxia And Polyneuropathy APAO
Mitochondrial Complex V Deficiency, Mitochondrial Type 1	MC5DM1 Mitochondrial Complex V Deficiency Mitochondrial Type 1 Mitochondrial Complex V Deficiency, Mitochondrial 1 Adult-Onset Ataxia And Polyneuropathy Infantile Hypertrophic Cardiomyopathy Mitochondrial Complex 5 Deficiency, Mitochondrial Type 1
Striatonigral Degeneration, Infantile, Mitochondrial	Bilateral Striatal Necrosis, Infantile, Mitochondrial Infantile Bilateral Striatal Necrosis, Mitochondrial Mitochondrial Infantile Bilateral Striatal Necrosis MIBSN
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Familial Bilateral Striatal Necrosis	Fbsn
Mitochondrial Dna-Associated Leigh Syndrome And Narp	Mtdna-Associated Leigh Syndrome Narp
Camptodactyly 1	Camptodactyly Of Finger CAMPD1 Camptodactyly And Knuckle Pads Camptodactyly Of Fingers
Mitochondrial Dna-Associated Leigh Syndrome	Mils Maternally Inherited Leigh Syndrome Leigh Disease, Maternally Inherited Subacute Necrotizing Encephalomyelopathy Maternally Inherited Maternally-Inherited Leigh Disease Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy Mtdna-Associated Leigh Syndrome
Periodic Paralysis With Later-Onset Distal Motor Neuropathy
Cardiomyopathy, Infantile Hypertrophic	Infantile Hypertrophic Cardiomyopathy CMHI
Cardiomyopathy, Infantile Histiocytoid	Histiocytoid Cardiomyopathy Foamy Myocardial Transformation Of Infancy Infantile Histiocytoid Cardiomyopathy Infantile Xanthomatous Cardiomyopathy Oncocytic Cardiomyopathy Cardiomyopathy, Infantile Xanthomatous Cardiomyopathy, Focal Lipid Cardiomyopathy, Oncocytic Focal Lipid Cardiomyopathy Infantile Cardiomyopathy With Histiocytoid Change CMIH Cardiomyopathy Focal Lipid Cardiomyopathy Infantile Xanthomatous Cardiomyopathy Oncocytic
Familial Infantile Bilateral Striatal Necrosis	Familial Ibsn Familial Infantile Striatonigral Degeneration Familial Infantile Striatonigral Necrosis
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Isolated Atp Synthase Deficiency	Isolated Mitochondrial Respiratory Chain Complex V Deficiency
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Myopathy, Lactic Acidosis, And Sideroblastic Anemia
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Hereditary Optic Neuropathy
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Mitochondrial Myopathy, Infantile, Transient	Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency MMIT Mitochondrial Myopathy, Infantile, Transient, Due To Respiratory Chain Deficiency Cox Deficiency Myopathy, Infantile, Transient Respiratory Chain Deficiency, Infantile, Transient Benign Cox Deficiency Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy Mitochondrial Myopathy With Reversible Cox Deficiency Mitochondrial Myopathy With Reversible Complex Iv Deficiency Reversible Infantile Cytochrome C Oxidase Deficiency Reversible Infantile Respiratory Chain Deficiency
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Polyneuropathy	Polyneuropathies
Echinococcosis	Hydatidosis Echinococcal Disease Echinococcosis Of Liver Hepatic Echinococcosis Hydatid Disease Liver Echinococcus Pulmonary Echinococcosis Hydatids Echinococcosis, Hepatic Echinococcosis, Pulmonary Unilocular Echinococcosis Echinococcus Disease Echinococcus Granulosus Infection Echinococcus Multilocularis Infection Dog Tapeworm Infection Echinococcus Granulosus Infestation Echinococciasis Cystic Echinococcosis
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Multiple Carboxylase Deficiency	Mcd Holocarboxylase Synthetase Deficiency
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Leigh Syndrome, French Canadian Type Mitochondrial Complex V Deficiency Nuclear Type 4 Cytochrome C Oxidase Deficiency, French Canadian Type Lsfc Cox Deficiency, French Canadian Type MC5DN4 MC4DN5 Cox Deficiency, Saguenay-Lac-Saint-Jean Type Leigh Syndrome, Saguenay-Lac-Saint-Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 French Canadian Leigh Disease Leigh Syndrome, French-Canadian Type Leigh Syndrome , French Canadian Type Mitochondrial Complex V Deficiency, Atp5a1 Type French Canadian Type Cox Deficiency French Canadian Type Cytochrome C Oxidase Deficiency French Canadian Type Leigh Syndrome Saguenay Lac Saint Jean Type Cox Deficiency Saguenay Lac Saint Jean Type Leigh Syndrome Cox Deficiency, Saguenay Lac Saint Jean Type Leigh Syndrome, Saguenay Lac Saint Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 Mitochondrial Complex V Deficiency Atp5a1 Type Mitochondrial Complex V Deficiency Type 4 Mitochondrial Complex V Deficiency, Nuclear, Type 4
Pearson Marrow-Pancreas Syndrome	Pearson Syndrome Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction Pearson'S Marrow/Pancreas Syndrome Pearson'S Syndrome Pearson'S Marrow-Pancreas Syndrome
Baylisascariasis	Infection By Baylisascaris
Lupus Erythematosus	Lupus Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus, Systemic Subacute Cutaneous Lupus Le - [Lupus Erythematosus]
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Complex Cortical Dysplasia With Other Brain Malformations 2 CDCBM2 Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 2
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Multiple Sclerosis	MS Multiple Sclerosis, Susceptibility To Disseminated Sclerosis Multiple Sclerosis, Disease Progression, Modifier Of Insular Sclerosis Multiple Sclerosis Modifier Of Disease Progression Multiple Sclerosis, Susceptibility To 1 Multiple Sclerosis, Susceptibility To, 1 Multiple Sclerosis 1 Generalized Multiple Sclerosis Multiple Sclerosis Variant Multiple Sclerosis Susceptibility To Cerebrospinal Sclerosis Generalised Multiple Sclerosis Ms - [Multiple Sclerosis] Disseminated Cerebrospinal Sclerosis Disseminated Multiple Sclerosis Disseminated Nervous System Myelosclerosis Multiple Cerebrospinal Sclerosis Multiple Combined Sclerosis Multiple Sclerosis Generalised Disseminated Brain Sclerosis Disseminated Spinal Sclerosis Insular Brain Sclerosis Miliary Brain Sclerosis Multiple Combined Sclerosis Of Spinal Cord Multiple Ascending Sclerosis Multiple Brain Sclerosis Multiple Sclerosis Of Brain Stem Multiple Sclerosis Of The Brain Stem Multiple Sclerosis Of Cord Sclérose En Plaques Plaque Sclerosis Multiple Sclerosis Of The Spinal Cord
Chronic Progressive External Ophthalmoplegia	Progressive External Ophthalmoplegia Cpeo Peo Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, External, Progressive, Chronic Graefe Disease Peo - [Progressive External Ophthalmoplegia] Ophthalmoplegia Plus Syndrome
Distal Renal Tubular Acidosis	Classic Rta Familial Distal Primary Acidosis Renal Tubular Acidosis Type 1 Drta Renal Tubular Acidosis, Distal
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Mitochondrial Myopathy And Sideroblastic Anemia MLASA1 Mlasa Myopathy, Lactic Acidosis And Sideroblastic Anemia Myopathy With Lactic Acidosis And Sideroblastic Anemia Sideroblastic Anemia And Mitochondrial Myopathy Myopathy With Lactic Acidosis And Sideroblastic Anemia 1
Fasciolopsiasis	Infection By Fasciolopsis Buski Infectious Disease By Fasciolopsis Intestinal Distomatosis Intestinal Distoma Giant Intestinal Fluke Infection Fasciolopsis Buski Infection Infection By Fasciolopsis Busk Fluke Infection Intestinal Fluke Infestation Infestation By Fasciolopsis Intestinal Distomiasis Intestinal Fluke Disease Intestinal Fluke Infection
Sparganosis	Infection By Sparganum Larval Diphyllobothriasis Spirometrosis Infection By Spirometra Larvae Larval Dibothriocephaliasis Sparganosis - Larval Diphyllobothriasis Spirometriosis Larval Dibothriocephalus Infestation Larval Diphyllobothrium Infestation Larval Dibothriocephalus Infection Due To Sparganum Larval Fish Tapeworm Infection Spirometra Larvae Infestation Sparganum Infestation Larval Bothriocephalus Infestation
Myopathy	Muscular Diseases Myopathies
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Mitochondrial Complex I Deficiency, Nuclear Type 16	MC1DN16 Nuclear Type Mitochondrial Complex I Deficiency 16 Mitochondrial Complex 1 Deficiency, Nuclear Type 16
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Cystic Echinococcosis	Echinococcus Granulosus Infection Echinococcus Granulosus Infection Of Lung Echinococcus Granulosus Echinococcus Granulosus Infection Of Thyroid Echinococcus Granulosus Infectious Disease Echinococcus Granulosus Infectious Disease Of Liver Echinococcus Granulosus Infectious Disease Of Thyroid Liver Echinococcus Granulosus Lung Echinococcus Granulosus Thyroid Echinococcus Granulosus Unilocular Echinococcosis Unilocular Hydatid Disease Hydatid Disease Hydatidosis Echinococcosis
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 11 CMS11 Cms Ie Cms1e Myasthenic Syndrome, Congenital, Ie Myasthenic Syndrome, Congenital, Ie, Formerly Cms1e, Formerly Cms Ie, Formerly Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome 1e Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency
Neonatal Period Electroclinical Syndrome
Deafness, Aminoglycoside-Induced	Streptomycin Ototoxicity Deafness, Mitochondrial, Modifier Of Aminoglycoside-Induced Deafness Deafness, Streptomycin-Induced Streptomycin-Induced Deafness DFNI
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Fatal Infantile Cox Deficiency Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalocardiomyopathy
Dicrocoeliasis	Disease Due To Dicrocoeliidae Lancet Fluke Infection Dicroceliosis Lancet Fluke Disease Lancet Fluke Infestation
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Dystonia 25	DYT25 Dystonia-25 Dystonia, Type 25
Torsion Dystonia 2	Dystonia 2, Torsion, Autosomal Recessive
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Spastic Ataxia	Spax Ataxia, Spastic
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08751	MT-ATP6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown