MT-TL1 - mitochondrially encoded tRNA leucine 1 (UUA/G) Gene

Also Known as MTTL1; TRNL1

Species: Homo sapiens

Gene Type: tRNA

Gene ID: 4567

Summary

Implicated in cardiomyopathy. [provided by Alliance of Genome Resources, Apr 2022]

Related Diseases

Diseases	Alias
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
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
Diabetes And Deafness, Maternally Inherited	MIDD Maternally Inherited Diabetes And Deafness Diabetes-Deafness Syndrome, Maternally Transmitted Ballinger-Wallace Syndrome Diabetes Mellitus, Type Ii, With Deafness Noninsulin-Dependent Diabetes Mellitus With Deafness Niddm With Deafness Diabetes-Deafness Syndrome Maternally Transmitted Ballinger Wallace Syndrome Diabetes Mellitus Type Ii With Deafness Maternally Transmitted Diabetes-Deafness Syndrome Mitochondrial Inherited Diabetes And Deafness Maternally-Inherited Diabetes And Deafness Maternally-Inherited Diabetes And Hearing Loss Mitochondrial Diabetes
Cyclic Vomiting Syndrome	CVS Cyclical Vomiting Syndrome Abdominal Migraine Familial Cyclic Vomiting Syndrome Cyclical Vomiting Periodic Vomiting
Glucose Intolerance	Glucose: Intolerance Glucose: Malabsorption Malabsorption Of Glucose Impaired Glucose Tolerance
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
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mtdna Mutation Hypertrophic Cardiomyopathy With Renal Anomalies Due To Mitochondrial Dna Mutation
3-Methylglutaconic Aciduria, Type I	3-Methylglutaconyl-Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type 1 Mga1 MGCA1 3mg-Coa Hydratase Deficiency Mga Type I Mga, Type I 3-Mg-Coa-Hydratase Deficiency 3 Methylglutaconyl Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type I 3 Alpha Methylglutaconic Aciduria Type I 3 Methylglutaconic Aciduria Type 1 3-Mgca Type I 3mg Coa Hydratase Deficiency Auh Defect Primary 3-Methylglutaconic Aciduria 3-Methylglutaconic Aciduria 1 3-Alpha-Methylglutaconic Aciduria Type 1 3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency 3-@Methylglutaconic Aciduria, Type I Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Macular Degeneration, Age-Related, 2	Age Related Macular Degeneration 2 ARMD2 Macular Degeneration, Senile Maculopathy, Age-Related, 2 Macular Degeneration, Age-Related, 2, Susceptibility To Macular Degeneration, Age-Related, Type 2
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Stroke, Ischemic	Cerebral Infarction Stroke Ischemic Stroke Cerebrovascular Accident Cerebral Infarction, Susceptibility To Stroke, Ischemic, Susceptibility To Cerebral Infarct Ischemic Stroke, Susceptibility To Stroke, Susceptibility To Cva - Cerebral Infarction ISCHSTR Ischemic Cerebrovascular Accident
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
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
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	CMTMA1
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Maternally-Inherited Cpeo Maternally-Inherited Chronic Progressive External Ophthalmoplegia Mtdna-Related Progressive External Ophthalmoplegia
Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudoobstruction Chronic Intestinal Pseudo-Obstruction Cipo Neuronal Intestinal Dysplasia Hollow Visceral Myopathy Familial Visceral Neuropathy Paralytic Ileus Intestinal Pseudoobstruction Chronic Idiopathic Intestinal Pseudo-Obstruction Ciip Congenital Short Bowel Syndrome Enteric Neuropathy Familial Visceral Myopathy Ipo Pseudo-Obstruction Of Intestine Pseudointestinal Obstruction Syndrome Pseudoobstructive Syndrome Congenital Idiopathic Intestinal Pseudoobstruction Visceral Myopathy, Familial
Advanced Sleep Phase Syndrome, Familial, 2	Advanced Sleep Phase Syndrome 2 FASPS2 Advanced Sleep-Phase Syndrome, Familial, 2 Familial Advanced Sleep Phase Syndrome 2 Sleep Phase Syndrome, Advanced, Familial, Type 2
Brain Small Vessel Disease 1	Col4a1-Related Brain Small Vessel Disease With Hemorrhage Col4a1-Related Familial Vascular Leukoencephalopathy Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy Brain Small Vessel Disease With Axenfeld-Riegar Anomaly Brain Small Vessel Disease With Hemorrhage Brain Small Vessel Disease With Or Without Ocular Anomalies Bsvd1 Infantile Hemiparesis Leukoencephalopathy With Axenfeld-Riegar Anomaly
Auditory Agnosia
Glycogen Storage Disease Ixd	GSD9D Gsd Ixd Muscle Phosphorylase Kinase Deficiency Muscle Glycogenosis Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency Glycogen Storage Disease Type 9d Glycogen Storage Disease Type 9e Glycogen Storage Disease Type Ixd Glycogen Storage Disease Type Ixe Glycogenosis Due To Muscle Phosphorylase Kinase Deficiency Glycogenosis Type 9d Glycogenosis Type 9e Glycogenosis Type Ixd Glycogenosis Type Ixe Gsd Due To Muscle Phosphorylase Kinase Deficiency Gsd Type 9d Gsd Type 9e Gsd Type Ixd Gsd Type Ixe Muscle Glycogenosis, X-Linked X-Linked Muscke Glycogenosis Glycogen Storage Disease 9d X-Linked Muscle Glycogenosis Storage Disease, Glycogen, Type Ixd
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
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
Visual Cortex Disease	Visual Cortex Dysfunction Visual Cortex Disorder Visual Cortical Disorder Disease Of Visual Cortex
Visual Pathway Disease	Disorder Of Visual Pathways
Brain Small Vessel Disease
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Neonatal Period Electroclinical Syndrome
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
Cortical Blindness	Blindness, Cortical
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
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
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 Dna Depletion Syndrome	Mtdna Depletion Syndrome
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
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
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
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
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Myopathy	Muscular Diseases Myopathies
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
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