TSFM - Ts translation elongation factor, mitochondrial Gene

Homo sapiens

Also known as EFTS; EFTSMT

Gene ID: 10102 | Gene type: protein coding

About TSFM

Cytogenetic location: 12q14.1 Genomic coordinates (GRCh38): 12:57,782,787-57,802,856 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 18.8), kidney (RPKM 13.0) and 25 other tissues.

Summary

This gene encodes a mitochondrial translation elongation factor. The encoded protein is an Enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

TSFM Products(4)

mRNA	Protein	Name
NM_001172695.2	NP_001166166.1	elongation factor Ts, mitochondrial isoform 3 precursor
NM_001172696.2	NP_001166167.1	elongation factor Ts, mitochondrial isoform 1 precursor
NM_001172697.2	NP_001166168.1	elongation factor Ts, mitochondrial isoform 4 precursor
NM_005726.6	NP_005717.3	elongation factor Ts, mitochondrial isoform 2 precursor

TSFM Protein Structure

UBA

EF_TS

0
100
200
300
325 a.a.

Protein Preferred Names

Protein Names

elongation factor Ts, mitochondrial

mitochondrial elongation factor Ts

Related Diseases

Diseases

Alias

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

Nephrotic Syndrome, Type 21

NPHS21	Nephrotic Syndrome Type 21
Nephrotic Syndrome 21

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Combined Oxidative Phosphorylation Deficiency

Combined Oxidative Phosphorylation Deficiency 39

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

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

Combined Oxidative Phosphorylation Deficiency 4

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

Nephrotic Syndrome, Type 2

NPHS2	Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
Srn1	Nephrotic Syndrome Type 2
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome	Nephrotic Syndrome 2
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome	Srn
Nephrotic Syndrome, Type 2, Susceptibility To	Idiopathic Nephrotic Syndrome

Metabolic Acidosis

Myopathy, Lactic Acidosis, And Sideroblastic Anemia

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

Endemic Typhus

Murine Typhus	Cat Flea Rickettsiosis
Fleaborne Typhus	Rat-Flea Typhus
Rickettsia Felis Spotted Fever	Shop Typhus
Toulon Typhus	Urban Typhus
Urban Typhus Of Malaya	Flea-Borne Typhus
Endemic Flea-Borne Typhus

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

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 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

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-RS15141	TSFM Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TSFM	MGD	MGI:1913649
Rattus norvegicus	TSFM	RGD	RGD:1593058
Macaca mulatta	TSFM	VGNC	VGNC:78660
Bos taurus	TSFM	VGNC	VGNC:36413
Felis catus	TSFM	VGNC	VGNC:66612