GFM1 - G elongation factor mitochondrial 1 Gene

Homo sapiens

Also known as EFG; GFM; EFG1; EFGM; EGF1; hEFG1; COXPD1; mtEF-G1

Gene ID: 85476 | Gene type: protein coding

About GFM1

Cytogenetic location: 3q25.32 Genomic coordinates (GRCh38): 3:158,644,527-158,695,581 (from NCBI)

This gene has 11 transcripts (splice variants), 201 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 17.7), thyroid (RPKM 16.7) and 25 other tissues.

Summary

Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]

GFM1 Products(10)

mRNA	Protein	Name
NM_001308164.2	NP_001295093.1	elongation factor G, mitochondrial isoform 1
NM_001308166.2	NP_001295095.1	elongation factor G, mitochondrial isoform 3
NM_001374355.1	NP_001361284.1	elongation factor G, mitochondrial isoform 4
NM_001374356.1	NP_001361285.1	elongation factor G, mitochondrial isoform 5
NM_001374357.1	NP_001361286.1	elongation factor G, mitochondrial isoform 6
NM_001374358.1	NP_001361287.1	elongation factor G, mitochondrial isoform 7
NM_001374359.1	NP_001361288.1	elongation factor G, mitochondrial isoform 8
NM_001374360.1	NP_001361289.1	elongation factor G, mitochondrial isoform 9
NM_001374361.1	NP_001361290.1	elongation factor G, mitochondrial isoform 10
NM_024996.7	NP_079272.4	elongation factor G, mitochondrial isoform 2

GFM1 Protein Structure

GTP_EFTU

GTP_EFTU_D2

EFG_II

EFG_IV

EFG_C

0
200
400
600
751 a.a.

Protein Preferred Names

Protein Names

elongation factor G, mitochondrial

G translation elongation factor, mitochondrial

Related Diseases

Diseases

Alias

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

Denture Stomatitis

Stomatitis, Denture

Denture Sore Mouth

Factor Vii Deficiency

Hypoproconvertinemia	F7 Deficiency
Congenital Proconvertin Deficiency	Congenital Factor Vii Deficiency
Factor 7 Deficiency	Deficiency, Stable
Proconvertin Deficiency	Prothrombin Conversion Accelerator Deficiency
Serum Prothrombin Conversion Accelerator Deficiency	Proconvertin Deficiency, Congenital
FA7D	Stable Disease
Deficiency, Factor Vii

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 13

COXPD13	Combined Oxidative Phosphorylation Defect Type 13
Combined Oxidative Phosphorylation Deficiency, Type 13

Combined Oxidative Phosphorylation Deficiency 39

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

Vulvovaginal Candidiasis

Candidiasis Of Vulva And Vagina	Candidiasis, Vulvovaginal
Candidal Vulvovaginitis	Candidal: Cervix
Monilial Vulvovaginitis	Candidiasis Vulvovaginal

Polymicrogyria

Pmg

Cardiomyopathy, Familial Hypertrophic, 16

Hypertrophic Cardiomyopathy 16	CMH16
Cardiomyopathy, Hypertrophic, 16	Cardiomyopathy Familial Hypertrophic 16
Cardiomyopathy, Familial Hypertrophic 16	Cardiomyopathy, Hypertrophic, Familial, Type 16

Spondylocostal Dysostosis 3, Autosomal Recessive

SCDO3	Spondylocostal Dysostosis, Autosomal Recessive 3
Spondylocostal Dysostosis 3	Autosomal Recessive Spondylocostal Dysostosis 3
Doid:0112361	Dysostosis, Spondylocostal, Autosomal Recessive, Type 3
Jarcho-Levin Syndrome

Mitochondrial Dna Depletion Syndrome 5

Succinate-Coa Ligase Deficiency	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
MTDPS5	Booth-Haworth-Dilling Syndrome
Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic	Mitochondrial Dna Depletion Syndrome-5
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive	Mitochondrial Encephalomyopathy Aminoacidopathy
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria
Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria	Succinate-Coenzyme A Ligase Deficiency
Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome	Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria
Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive	Mitochondrial Dna Depletion Syndrome, Type 5

Cardiomyopathy, Familial Hypertrophic, 18

Hypertrophic Cardiomyopathy 18	CMH18
Cardiomyopathy, Hypertrophic, 18	Cardiomyopathy Familial Hypertrophic 18
Cardiomyopathy, Familial Hypertrophic 18	Cardiomyopathy, Hypertrophic, Familial, Type 18

Combined Oxidative Phosphorylation Deficiency 4

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

Cardiomyopathy, Familial Hypertrophic, 17

Hypertrophic Cardiomyopathy 17	CMH17
Cardiomyopathy, Hypertrophic, 17	Cardiomyopathy Familial Hypertrophic 17
Cardiomyopathy, Familial Hypertrophic 17	Cardiomyopathy, Hypertrophic, Familial, Type 17

Spondyloepiphyseal Dysplasia, Kimberley Type

SEDK	Spondyloepiphyseal Dysplasia Kimberley Type
Spondyloepiphyseal Dysplasia Type Kimberley	Dysplasia, Spondyloepiphyseal, Kimberley Type

Median Rhomboid Glossitis

Persistent Tuberculum Impar	Glossitis Rhomboidea Mediana
Superficial Midline Glossitis

Oral Candidiasis

Thrush	Candidiasis Of Mouth
Oral Moniliasis	Thrush, Oral
Candidiasis, Oral	Oral Thrush
Candidiasis	Equine Thrush

Hemophilia B

Christmas Disease	Factor Ix Deficiency
F9 Deficiency	HEMB
Plasma Thromboplastin Component Deficiency	Congenital Factor Ix Deficiency
Mild Hemophilia B	Severe Hemophilia B
Congenital Factor Ix Disorder	Deficiency, Functional Factor Ix
Hem B	Mild Congenital F9 Deficiency
Mild Congenital Factor Ix Deficiency	Moderate Hemophilia B
Moderate Congenital F9 Deficiency	Moderate Congenital Factor Ix Deficiency
Severe Congenital F9 Deficiency	Severe Congenital Factor Ix Deficiency
Bleeding Disorder In Hemophilia B Carriers	Congenital F9 Deficiency
Recessive X-Linked Hemophilia B

Opportunistic Mycosis

Opportunistic Mycoses

Opportunistic Systemic Mycoses

Vaginal Disease

Vaginal Diseases

Fungal Infectious Disease

Mycoses

Mycosis

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

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

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-RS05380	GFM1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GFM1	MGD	MGI:107339
Macaca mulatta	GFM1	VGNC	VGNC:72719
Canis familiaris	GFM1	VGNC	VGNC:41183
Felis catus	GFM1	VGNC	VGNC:62524
Rattus norvegicus	GFM1	RGD	RGD:631396
Bos taurus	GFM1	VGNC	VGNC:29327