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 ... See more...

Aliases for GFM1 Gene

Aliases for GFM1 Gene

  • G Elongation Factor Mitochondrial 1 2 3 5
  • GFM 2 3 4
  • G Translation Elongation Factor, Mitochondrial 2 3
  • Elongation Factor G, Mitochondrial 3 4
  • MtEF-G1 2 3
  • HEFG1 3 4
  • EFG1 3 4
  • EFGM 2 3
  • EGF1 2 3
  • EFG 3 4
  • Elongation Factor G 1, Mitochondrial 4
  • Mitochondrial Elongation Factor G1 3
  • Mitochondrial Elongation Factor G 3
  • Elongation Factor G1 4
  • MEF-G 1 4
  • COXPD1 3
  • EF-Gmt 4
  • GFM1 5

External Ids for GFM1 Gene

Previous GeneCards Identifiers for GFM1 Gene

  • GC03P159846
  • GC03P158362
  • GC03P155758

Summaries for GFM1 Gene

Entrez Gene Summary for GFM1 Gene

  • 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]

GeneCards Summary for GFM1 Gene

GFM1 (G Elongation Factor Mitochondrial 1) is a Protein Coding gene. Diseases associated with GFM1 include Combined Oxidative Phosphorylation Deficiency 1 and Combined Oxidative Phosphorylation Deficiency. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is GFM2.

UniProtKB/Swiss-Prot Summary for GFM1 Gene

  • Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis.

Gene Wiki entry for GFM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GFM1 Gene

Genomics for GFM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GFM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J158643 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 277.8 +0.5 504 2.3 BCLAF1 SP1 ZNF207 IKZF1 MYC SIX5 ZNF580 KLF9 POLR2A CEBPA GFM1 HSALNG0030159 HSALNG0030160 MLF1 ENSG00000271778 ENSG00000240207 LXN
GH03J158634 Promoter 0.3 EPDnew 250.4 -10.1 -10120 0.1 piR-52680-226 GFM1 MLF1 piR-33978-009
GH03J158669 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 27.4 +27.0 27026 3.9 BCLAF1 ZNF600 POLR2A ZIC2 CTCF TRIM22 MAX ZNF217 SIN3A ELF1 LXN GFM1 MLF1 ENSG00000240207 HSALNG0030161
GH03J158709 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 22.8 +67.0 67043 5 MYC IKZF1 JUND ZNF592 ZIC2 BHLHE40 MNT ZNF316 NFE2 BATF ENSG00000240207 GFM1 MLF1 LXN MFSD1 RARRES1 ENSG00000272247 piR-58873 LOC112268457
GH03J158570 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.1 -72.9 -72860 2.7 SP1 NCOR1 ZNF600 JUND ZNF592 ATF2 POLR2A SMAD5 MBD2 TBP MLF1 HSALNG0030152 LOC100996447 lnc-RSRC1-1 GFM1 ENSG00000240207 MFSD1 lnc-MLF1-1 lnc-LXN-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GFM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GFM1

Top Transcription factor binding sites by QIAGEN in the GFM1 gene promoter:
  • AP-1
  • ATF-2
  • c-Ets-1
  • c-Jun
  • Nkx2-5
  • PPAR-alpha
  • RFX1
  • Sox9
  • STAT3

Genomic Locations for GFM1 Gene

Latest Assembly
chr3:158,644,527-158,695,581
(GRCh38/hg38)
Size:
51,055 bases
Orientation:
Plus strand

Previous Assembly
chr3:158,362,316-158,413,370
(GRCh37/hg19 by Entrez Gene)
Size:
51,055 bases
Orientation:
Plus strand

chr3:158,362,067-158,410,364
(GRCh37/hg19 by Ensembl)
Size:
48,298 bases
Orientation:
Plus strand

Genomic View for GFM1 Gene

Genes around GFM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFM1 Gene

Proteins for GFM1 Gene

  • Protein details for GFM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RP9-EFGM_HUMAN
    Recommended name:
    Elongation factor G, mitochondrial
    Protein Accession:
    Q96RP9
    Secondary Accessions:
    • A6NCI9
    • B2RCB9
    • B3KRW1
    • Q6GTN2
    • Q96T39

    Protein attributes for GFM1 Gene

    Size:
    751 amino acids
    Molecular mass:
    83471 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAW78682.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GFM1 Gene

    Alternative splice isoforms for GFM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFM1 Gene

Post-translational modifications for GFM1 Gene

  • Ubiquitination at Lys175 and Lys280
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for GFM1
  • Boster Bio Antibodies for GFM1

No data available for DME Specific Peptides for GFM1 Gene

Domains & Families for GFM1 Gene

Gene Families for GFM1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GFM1 Gene

GenScript: Design optimal peptide antigens:
  • G elongation factor, mitochondrial 1, isoform CRA_c (D3DNL3_HUMAN)
  • Elongation factor G1 (EFGM_HUMAN)
  • cDNA FLJ12662 fis, clone NT2RM4002205, moderately similar to ELONGATION FACTOR G, MITOCHONDRIAL (Q9H9M0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96RP9

UniProtKB/Swiss-Prot:

EFGM_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
genes like me logo Genes that share domains with GFM1: view

Function for GFM1 Gene

Molecular function for GFM1 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis.

Phenotypes From GWAS Catalog for GFM1 Gene

Gene Ontology (GO) - Molecular Function for GFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0003746 translation elongation factor activity IBA,IDA 19716793
GO:0003924 GTPase activity IEA,IDA 19716793
GO:0005515 protein binding IPI 18157088
genes like me logo Genes that share ontologies with GFM1: view
genes like me logo Genes that share phenotypes with GFM1: view

Human Phenotype Ontology for GFM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GFM1 Gene

MGI Knock Outs for GFM1:
  • Gfm1 Gfm1<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFM1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GFM1 Gene

Localization for GFM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFM1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GFM1 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 3
plasma membrane 2
extracellular 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GFM1: view

Pathways & Interactions for GFM1 Gene

genes like me logo Genes that share pathways with GFM1: view

Pathways by source for GFM1 Gene

UniProtKB/Swiss-Prot Q96RP9-EFGM_HUMAN

  • Pathway: Protein biosynthesis; polypeptide chain elongation.

Gene Ontology (GO) - Biological Process for GFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006414 translational elongation IEA --
GO:0070125 mitochondrial translational elongation IBA,TAS --
genes like me logo Genes that share ontologies with GFM1: view

No data available for SIGNOR curated interactions for GFM1 Gene

Drugs & Compounds for GFM1 Gene

(13) Drugs for GFM1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Phosphate Experimental Pharma 0

(13) Additional Compounds for GFM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GFM1: view

Transcripts for GFM1 Gene

mRNA/cDNA for GFM1 Gene

10 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFM1

Alternative Splicing Database (ASD) splice patterns (SP) for GFM1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c ^ 19 ^ 20 ^
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6: - - -
SP7: - -
SP8: -

ExUns: 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for GFM1 Gene

GeneLoc Exon Structure for
GFM1

Expression for GFM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GFM1 Gene

Protein differential expression in normal tissues from HIPED for GFM1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.9), Adrenal (7.8), and Lymph node (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GFM1 Gene



Protein tissue co-expression partners for GFM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GFM1

SOURCE GeneReport for Unigene cluster for GFM1 Gene:

Hs.518355

Evidence on tissue expression from TISSUES for GFM1 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Intestine(4.4)
  • Kidney(2.9)
  • Heart(2.5)
  • Skin(2.4)
  • Muscle(2.4)
  • Eye(2.3)
  • Spleen(2.2)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GFM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • eye
  • head
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
General:
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with GFM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GFM1 Gene

Orthologs for GFM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GFM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GFM1 29 30
  • 99.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GFM1 29 30
  • 90.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GFM1 29 30
  • 89.19 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 86 (a)
OneToMany
-- 30
  • 84 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
-- 30
  • 77 (a)
OneToMany
-- 30
  • 61 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia GFM1 30
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gfm1 29 16 30
  • 85.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gfm1 29
  • 83.49 (n)
Chicken
(Gallus gallus)
Aves GFM1 29 30
  • 75.68 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GFM1 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gfm1 29
  • 76.93 (n)
Str.11738 29
Zebrafish
(Danio rerio)
Actinopterygii gfm1 29 30
  • 70.51 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta ico 29 30
  • 62.9 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta EFGM_ANOGA 29
  • 60.53 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_F29C12.4 29
  • 57.73 (n)
gfm-1 30
  • 55 (a)
OneToMany
F58G1.8 30
  • 34 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEF1 29 30 32
  • 58.88 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABR227C 29
  • 57.99 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05467g 29
  • 57.6 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G45332 29
  • 58.73 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0565500 29
  • 56.86 (n)
Os.3921 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 59 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1306.01c 29
  • 58.58 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02955 29
  • 55.05 (n)
Species where no ortholog for GFM1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GFM1 Gene

ENSEMBL:
Gene Tree for GFM1 (if available)
TreeFam:
Gene Tree for GFM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GFM1: view image
Alliance of Genome Resources:
Additional Orthologs for GFM1

Paralogs for GFM1 Gene

(2) SIMAP similar genes for GFM1 Gene using alignment to 6 proteins:

  • EFGM_HUMAN
  • C9IZ01_HUMAN
  • C9JA25_HUMAN
  • D3DNL3_HUMAN
  • F8WAU4_HUMAN
  • H7C5M4_HUMAN
genes like me logo Genes that share paralogs with GFM1: view

Variants for GFM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GFM1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1028356 Uncertain Significance: Combined oxidative phosphorylation deficiency 1 158,659,079(+) G/A
NM_024996.7(GFM1):c.1221+20G>A
INTRON
1028357 Pathogenic: Combined oxidative phosphorylation deficiency 1 158,662,628(+) G/T
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)
NONSENSE,NON_CODING_TRANSCRIPT
1028358 Uncertain Significance: Combined oxidative phosphorylation deficiency 1 158,646,783(+) A/T
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
848623 Pathogenic: not provided 158,660,906(+) T/TGCATTGTTTGGCA
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
860673 Pathogenic: not provided 158,649,129(+) C/T
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)
NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GFM1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GFM1 Gene

Variant ID Type Subtype PubMed ID
esv2763312 CNV gain 21179565
nsv1004124 CNV gain 25217958
nsv1014255 CNV gain 25217958

Variation tolerance for GFM1 Gene

Residual Variation Intolerance Score: 17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GFM1 Gene

Human Gene Mutation Database (HGMD)
GFM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GFM1
Leiden Open Variation Database (LOVD)
GFM1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFM1 Gene

Disorders for GFM1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for GFM1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GFM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EFGM_HUMAN
  • Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]: A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy. {ECO:0000269 PubMed:15537906, ECO:0000269 PubMed:17160893, ECO:0000269 PubMed:21119709, ECO:0000269 PubMed:26741492}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GFM1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GFM1: view

No data available for Genatlas for GFM1 Gene

Publications for GFM1 Gene

  1. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. (PMID: 17160893) Valente L … Zeviani M (American journal of human genetics 2007) 3 4 22 72
  2. Cloning and characterization of human and mouse mitochondrial elongation factor G, GFM and Gfm, and mapping of GFM to human chromosome 3q25.1-q26.2. (PMID: 11374907) Gao J … Zhao S (Genomics 2001) 2 3 4 22
  3. Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution. (PMID: 11735030) Hammarsund M … Sangfelt O (Human genetics 2001) 2 3 4 22
  4. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. (PMID: 19716793) Tsuboi M … Takeuchi N (Molecular cell 2009) 3 4 22
  5. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. (PMID: 15537906) Coenen MJ … Smeitink JA (The New England journal of medicine 2004) 3 4 22

Products for GFM1 Gene

Sources for GFM1 Gene