MTO1 - mitochondrial tRNA translation optimization 1 Gene

Also Known as CGI-02; COXPD10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25821

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

MTO1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P89637	MTO1 Antibody (YA8981)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-149193	5-Taurinomethyluridine		/	Unkown
HY-RS08809	MTO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21380	Mto1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27899	Mto1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MTO1	NCBI