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

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

中文名称:线粒体编码的 tRNA 亮氨酸 1 (UUA/G)

种属: Homo sapiens

同用名: MTTL1; TRNL1

基因 ID: 4567 | 基因类型: tRNA

关于 MT-TL1

功能概要

与心肌病有关。 [由基因组资源联盟提供,2022 年 4 月]

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

关联疾病

疾病名称 别名
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

疾病名称 别名
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