MTO1 - mitochondrial tRNA translation optimization 1 Gene

Homo sapiens

Also known as CGI-02; COXPD10

Gene ID: 25821 | Gene type: protein coding

About MTO1

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:73,461,737-73,509,236 (from NCBI)

This gene has 79 transcripts (splice variants), 197 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 10.3), lymph node (RPKM 8.3) and 25 other tissues.

Summary

This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MTO1 Products(3)

mRNA	Protein	Name
NM_001123226.2	NP_001116698.1	protein MTO1 homolog, mitochondrial isoform c
NM_012123.4	NP_036255.2	protein MTO1 homolog, mitochondrial isoform a
NM_133645.3	NP_598400.1	protein MTO1 homolog, mitochondrial isoform b

MTO1 Protein Structure

GIDA

GIDA_assoc

0
200
400
600
717 a.a.

Protein Preferred Names

Protein Names

protein MTO1 homolog, mitochondrial

homolog of yeast Mto1

Related Diseases

Diseases

Alias

Combined Oxidative Phosphorylation Deficiency 10

COXPD10	Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency
Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis	Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis
Combined Oxidative Phosphorylation Defect Type 10	Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis
Combined Oxidative Phosphorylation Deficiency, Type 10

Mitochondrial Oxidative Phosphorylation Disorder

Oxphos Disease	Mitochondrial Respiratory Chain Disorders
Oxphos - [Oxidative Phosphorylation] Diseases

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

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

Combined Oxidative Phosphorylation Deficiency

Tuberculum Sellae Meningioma

Meningioma Of The Tuberculum Sellae

Sella Turcica Neoplasm

Tumor Of Sella Turcica

Liver Failure, Infantile, Transient

Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins	Transient Infantile Liver Failure
LFIT	Acute Infantile Liver Failure
Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins	Liver Failure, Transient Infantile
Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect	Liver Failure, Acute Infantile
Failure, Liver, Transient, Infantile

Queensland Tick Typhus

Australian Tick Typhus	North Queensland Tick Typhus
Rickettsia Australis Spotted Fever

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2

MLASA2	Myopathy With Lactic Acidosis And Sideroblastic Anemia 2
Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

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

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

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

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

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 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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08809	MTO1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MTO1	VGNC	VGNC:102469
Mus musculus	MTO1	MGD	MGI:1915541
Rattus norvegicus	MTO1	RGD	RGD:1308830
Bos taurus	MTO1	VGNC	VGNC:31747
Macaca mulatta	MTO1	VGNC	VGNC:74993
Canis familiaris	MTO1	VGNC	VGNC:43489