TUFM - Tu translation elongation factor, mitochondrial Gene

Homo sapiens

Also known as P43; EFTU; COXPD4; EF-TuMT

Gene ID: 7284 | Gene type: protein coding

About TUFM

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:28,842,411-28,846,348 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 62.5), colon (RPKM 52.5) and 25 other tissues.

Summary

This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

TUFM Products(2)

mRNA	Protein	Name
NM_001365360.2	NP_001352289.1	elongation factor Tu, mitochondrial isoform 2 precursor
NM_003321.5	NP_003312.3	elongation factor Tu, mitochondrial isoform 1 precursor

TUFM Protein Structure

GTP_EFTU

GTP_EFTU_D2

GTP_EFTU_D3

0
100
200
300
400
455 a.a.

Protein Preferred Names

Protein Names

elongation factor Tu, mitochondrial

EF-Tu

Related Diseases

Diseases

Alias

Combined Oxidative Phosphorylation Deficiency 4

COXPD4	Combined Oxidative Phosphorylation Defect Type 4
Combined Oxidative Phosphorylation Deficiency, Type 4

Combined Oxidative Phosphorylation Deficiency

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Combined Oxidative Phosphorylation Deficiency 3

Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3	COXPD3
Encephalomyopathy, Respiratory Failure, And Lactic Acidosis	Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis
Fatal Mitochondrial Disease Due To Coxpd3	Concentric Cardiomyopathy Hypotonia And Lactic Acidosis
Encephalomyopathy Respiratory Failure And Lactic Acidosis	Encephalomyopathy With Respiratory Failure And Lactic Acidosis
Combined Oxidative Phosphorylation Deficiency, Type 3

Combined Oxidative Phosphorylation Deficiency 39

COXPD39	Combined Oxidative Phosphorylation Defect Type 39
Gfm2-Related Combined Oxidative Phosphorylation Defect

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

Combined Oxidative Phosphorylation Deficiency 1

Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1	COXPD1
Early Fatal Progressive Hepatoencephalopathy	Hepatoencephalopathy Due To Coxpd1
Combined Oxidative Phosphorylation Deficiency, Type 1	Hepatoencephalopathy, Early Fatal Progressive
Hepatoencephalopathy Early Fatal Progressive

Skin Amelanotic Melanoma

Skin Amelanotic Malignant Melanoma

Amelanotic Skin Melanoma

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

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS15267	TUFM Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TUFM	VGNC	VGNC:78674
Bos taurus	TUFM	VGNC	VGNC:36517
Rattus norvegicus	TUFM	RGD	RGD:1305501
Felis catus	TUFM	VGNC	VGNC:66708
Mus musculus	TUFM	MGD	MGI:1923686
Canis familiaris	TUFM	VGNC	VGNC:54083